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Results for tissues
  Mim number
Name of disease
ICD identifier
ICD name
anatomic origin Nb of Persons Bank Contact Last update Date  
 
MITOCHONDRIAL ENCEPHALOMYOP.
G71.3
muscle 27 corrado.angelini@unipd.it 2008-07-04  
  253601
LGMD2B, DYSFERLINOPATHY

muscle 13 maurizio.moggio@unimi.it 2008-06-23  
  253550
WERDNIG-HOFFMANN; SMA2

muscle 47 corrado.angelini@unipd.it 2008-07-04  
 
RESPIRATORY CHAIN DEFECTS
G71.3
Mitochondrial myopathy, not elsewhere classified (Respiratory Chain deficiency)
muscle 15 corrado.angelini@unipd.it 2008-07-04  
 
CONGENITAL DYSTROPHY;CMD
G71.0
muscle 45 corrado.angelini@unipd.it 2008-07-04  
  145600
MALIGNANT HYPERTHERMIA;MH

muscle 87 corrado.angelini@unipd.it 2008-07-04  
  310100
BECKER DYSTROPHY;BMD
G71.0
Muscular dystrophy (Becker type )
muscle 211 corrado.angelini@unipd.it 2008-07-04  
  253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE
G71.0
Muscular dystrophy
muscle 26 luisa.politano@unina2.it 2008-06-30  
  608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
G71.0
Muscular dystrophy (LGMD 2D with mutation in alpha-SG)
muscle 3 luisa.politano@unina2.it 2008-06-30  
  158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
G71.0
Muscular dystrophy
muscle 22 luisa.politano@unina2.it 2008-06-30  
  115200
DILATED CARDIOMYOPATHIES

muscle 1 luisa.politano@unina2.it 2008-06-30  
  120220
BETHLEM MYOPATHY

muscle 2 luisa.politano@unina2.it 2008-06-30  
  161800
NEMALIN MYOPATHY
G71.2
Congenital myopathies [Nemaline type]
Skeletal muscle 29 btr.aim@institut-myologie.org 2008-07-06  
 
INFLAMMATORY MYOPATHIES
M33.9
muscle 3 luisa.politano@unina2.it 2008-07-07  
  253700
LGMD2C, GAMMA-SARCOGLYCANOPATHY
G71.0
Muscular dystrophy
Musculoskeletal System 5 mmora@istituto-besta.it 2008-01-09  
  607855
MEROSINOPATHY, LAMA2
G71.2
Congenital myopathies
Musculoskeletal System 17 mmora@istituto-besta.it 2008-01-09  
  158900
FACIO-SCAPULO-HUMERAL, FSHD1
G71.0
Muscular dystrophy
Musculoskeletal System 32 mmora@istituto-besta.it 2008-01-09  
  602668
MYOTONIC DYSTROPHY TYPE 2, PROMM, DM2
G71.1
Myotonic disorders
Musculoskeletal system 5 mmora@istituto-besta.it 2008-01-09  
 
MULTIPLE LIPOMATOSIS
E88.2
Lipomatosis, not elsewhere classified
Musculoskeletal System 1 mmora@istituto-besta.it 2008-01-09  
 
CONGENITAL MYASTENIA
G70.2
Congenital and developmental myasthenia
Musculoskeletal System 3 mmora@istituto-besta.it 2008-01-09  
  229300
FRIEDRICH ATAXIA
G11.1
Early-onset cerebellar ataxia
Musculoskeletal System 3 mmora@istituto-besta.it 2008-01-09  
 
CONTROLS

Musculoskeletal System 320 mmora@istituto-besta.it 2008-01-09  
 
G71.9
Primary disorder of muscle, unspecified
muscle 58 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G72.4
Inflammatory myopathy, not elsewhere classified
muscle 11 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
K59.1
Functional diarrhoea
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  300376
BECKER DYSTROPHY, BMD

muscle 66 maurizio.moggio@unimi.it 2008-06-23  
  253700
LGMD2C, GAMMA-SARCOGLYCANOPATHY

muscle 2 maurizio.moggio@unimi.it 2008-06-23  
  164300
OCULO-PHARYNGEAL

muscle 3 maurizio.moggio@unimi.it 2008-06-23  
  232600
GLYCOGENOSIS TYPE V, MC ARDLE

muscle 17 maurizio.moggio@unimi.it 2008-06-23  
 
MTDNA MACRODELETIONS

muscle 88 maurizio.moggio@unimi.it 2008-06-23  
 
OTHER MTDNA POINT MUTATIONS

muscle 12 maurizio.moggio@unimi.it 2008-06-23  
 
MYASTHENIA GRAVIS

muscle 13 maurizio.moggio@unimi.it 2008-06-23  
 
S. OF DOWN

nerve 1 maurizio.moggio@unimi.it 2008-06-23  
 
NEMALINE MYOPATHY
G71.2
Congenital myopathies
Musculoskeletal System 14 mmora@istituto-besta.it 2008-01-09  
 
CENTRONUCLEAR MYOPATHY
G71.2
Congenital myopathies
Musculoskeletal System 18 mmora@istituto-besta.it 2008-01-09  
  232400
GLYCOGENOSIS TYPE III
G74.0
Glycogen storage disease
Musculoskeletal System 1 mmora@istituto-besta.it 2008-01-09  
  255110
CPT DEFICIENCY
E71.3
Disorders of fatty-acid metabolism
Musculoskeletal System 16 mmora@istituto-besta.it 2008-01-09  
 
INCLUSION BODY MYOSITIS
G72.4
Inflammatory myopathy, not elsewhere classified
Musculoskeletal System 32 mmora@istituto-besta.it 2008-01-09  
  300376
MUSCULAR DYSTROPHY, BECKER TYPE; BMD CARRIERS
G71.0
Muscular dystrophy (Becker type )
heart 1 luisa.politano@unina2.it 2008-06-30  
 
M33.2
Polymyositis
muscle 3 luisa.politano@unina2.it 2008-06-30  
  117000
CENTRALCORE MYOPATHY
G71.2
Congenital myopathies (Central core disease)
muscle 7 luisa.politano@unina2.it 2008-06-30  
  607155
LGMD2I, FKRP

muscle 3 maurizio.moggio@unimi.it 2008-06-23  
 
CONGENITAL DYSTROPHIES

muscle 9 maurizio.moggio@unimi.it 2008-06-23  
  117000
CENTRALCORE MYOPATHY

muscle 4 maurizio.moggio@unimi.it 2008-06-23  
  232300
GLYCOGENOSIS TYPE II, INCLUDING POMPE

muscle 98 maurizio.moggio@unimi.it 2008-06-23  
 
MTDNA DEPLETION

muscle 9 maurizio.moggio@unimi.it 2008-06-23  
  255110
CPT DEFICIENCY

muscle 12 maurizio.moggio@unimi.it 2008-06-23  
 
MALIGNANT HYPERTHERMIA

muscle 12 maurizio.moggio@unimi.it 2008-06-23  
 
MILD NON SPECIFIC MYOPATHIC SIGNS

muscle 823 maurizio.moggio@unimi.it 2008-06-23  
 
MYOCARDITIS

heart 3 maurizio.moggio@unimi.it 2008-06-23  
  300376
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
G71.0
Muscular dystrophy (Becker type )
heart 5 luisa.politano@unina2.it 2008-06-30  
  159001
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
G71.0
Muscular dystrophy (LGMD 1B)
muscle 2 luisa.politano@unina2.it 2008-06-30  
  253601
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
G71.0
Muscular dystrophy (LGMD 2B)
muscle 20 luisa.politano@unina2.it 2008-06-30  
  608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
G71.0
Muscular dystrophy (LGMD 2E with mutation in beta-SG)
muscle 8 luisa.politano@unina2.it 2008-06-30  
  248700
H49.4
Progressive external ophthalmoplegia (CPEO)
muscle 1 luisa.politano@unina2.it 2008-06-30  
  302045
X-L DILATED CARDIOMYOPATHIES

muscle 4 luisa.politano@unina2.it 2008-06-30  
  253601
DISFERLINOPATHY
G71.0
Muscular dystrophy (LGMD 2B)
muscle 29 corrado.angelini@unipd.it 2008-07-04  
  156225
MEROSINOPATHY;LAMA2
G71.0
muscle 22 corrado.angelini@unipd.it 2008-07-04  
 
METABOLIC MYOPATHY
E88.9
muscle 39 corrado.angelini@unipd.it 2008-07-04  
  255110
CPT DEFICIENCY

muscle 30 corrado.angelini@unipd.it 2008-07-04  
 
MYASTENIC SYNDROME
G70.0
muscle 5 corrado.angelini@unipd.it 2008-07-04  
  117000
MALIGNANT HYPERTHERMIA, CCD;MH

muscle 14 corrado.angelini@unipd.it 2008-07-04  
  313200
KENNEDY DISEASE CARRIERS; SBMA

muscle 4 corrado.angelini@unipd.it 2008-07-04  
 
CHRONIC NEUROPATHY
G62.9
muscle 45 corrado.angelini@unipd.it 2008-07-04  
  145600
FRAGILE X SYNDROME; FRAXA

muscle 1 corrado.angelini@unipd.it 2008-07-04  
  607855
CONGENITAL MUSCULAR DYSTROPHY, MEROSIN DEFICIENT
G71.2
Congenital myopathies [Congenital muscular dystrophy type]
Fat tissue 3 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Heart 47 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Liver 18 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Testicle 18 btr.aim@institut-myologie.org 2008-07-06  
  310200
DUCHENNE MUSCULAR DYSTROPHY
G71.0
Muscular dystrophy [Duchenne type]
Skeletal muscle 468 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Lymph nodes 2 btr.aim@institut-myologie.org 2008-07-06  
  253700
LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2C (LGMD2C), GAMMA SARCO-GLYCAN RELATED
G71.0
Muscular dystrophy [Limb girdle type, subtype 2C, Gamma SarcoGlycan Related]
Skeletal muscle 18 btr.aim@institut-myologie.org 2008-07-06  
 
MITOCHONDRIAL MYOPATHY
G71.3
Mitochondrial myopathy
Skeletal muscle 5 btr.aim@institut-myologie.org 2008-07-06  
 
UNSPECIFIED MYOPATHY
G72.9
Myopathy, unspecified
Skin 8 btr.aim@institut-myologie.org 2008-07-06  
  103220
ADENINE NUCLEOTIDE TRANSLOCATOR
G71.3
Mitochondrial myopathy, not elsewhere classified
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G82.4
Spastic tetraplegia
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
T88.3
Malignant hyperthermia due to anaesthesis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  255100
LIPID STORAGE MYOPATHY

muscle 11 luisa.politano@unina2.it 2008-06-30  
  607855
CONGENITAL MUSCULAR DYSTROPHY, MEROSIN DEFICIENT
G71.2
Congenital myopathies [Congenital muscular dystrophy type]
Nerve 1 btr.aim@institut-myologie.org 2008-07-06  
  118220
CHARCOT-MARIE-TOOTH DISEASE;CMT1A
G60.0
muscle 1 corrado.angelini@unipd.it 2008-07-04  
  611615
DILATED CARDIOMYOPATHY
I42.0
Dilated cardiomyopathy
Skeletal muscle 123 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Heart 2 btr.aim@institut-myologie.org 2008-07-06  
 
LIMB GIRDLE MUSCULAR DYSTROPHY, UNSPECIFIED SUBTYPE
G71.0
Muscular dystrophy [Limb girdle type]
Skeletal muscle 5 btr.aim@institut-myologie.org 2008-07-06  
  255320
MULTIMINICORE MYOPATHY
G71.2
Congenital myopathies [multiminicore type]
Skin 2 btr.aim@institut-myologie.org 2008-07-06  
  160900
MYOTONIC DYSTROPHY 1 (STEINERT DISEASE)
G71.1
Myotonic disorders [Dystrophia myotonica, Steinert type]
Bone 3 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Skin 139 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Lung 4 btr.aim@institut-myologie.org 2008-07-06  
  310200
DUCHENNE MUSCULAR DYSTROPHY
G71.0
Muscular dystrophy [Duchenne type]
Tendon 21 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Liver 2 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Spinal cord 12 btr.aim@institut-myologie.org 2008-07-06  
  253601
LGMD2B, DYSFERLINOPATHY
G71.0
Muscular dystrophy
Musculoskeletal System 19 mmora@istituto-besta.it 2008-01-09  
  604286
LGMD2E, BETA-SARCOGLYCANOPATHY
G71.0
Muscular dystrophy
Musculoskeletal System 4 mmora@istituto-besta.it 2008-01-09  
  607155
LGMD2I, FKRP
G71.0
Muscular dystrophy
Musculoskeletal System 4 mmora@istituto-besta.it 2008-01-09  
  607439
CONGENITAL DYSTROPHY. POMT2
G71.2
Congenital myopathies
Hemic and Immune System 1 mmora@istituto-besta.it 2008-01-09  
  232600
GLYCOGENOSIS TYPE V, MC ARDLE
G74.0
Glycogen storage disease
Musculoskeletal System 21 mmora@istituto-besta.it 2008-01-09  
 
MITOCHONDRIAL-LIPID-GLYCOGEN STORAGE
G71.3
Mitochondrial myopathy, not elsewhere classified
Musculoskeletal System 1 mmora@istituto-besta.it 2008-01-09  
 
MYASTENIC SYNDROME
G70.2
Congenital and developmental myasthenia
Musculoskeletal System 2 mmora@istituto-besta.it 2008-01-09  
 
E03.9
Hypothyroidism, unspecified
muscle 6 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  313200
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
G12.1
Other inherited spinal muscular atrophy
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G24.9
Dystonia, unspecified
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Bladder 1 btr.aim@institut-myologie.org 2008-07-06  
 
HEREDITARY AND IDIOPATHIC NEUROPATHY
G60.0
Charcot-Marie-Tooth Disease
Skeletal muscle 24 btr.aim@institut-myologie.org 2008-07-06  
 
IDIOPATHIC SCOLIOSIS
M41
Scoliosis
Skeletal muscle 29 btr.aim@institut-myologie.org 2008-07-06  
 
MUCOPLOLYSACCHARIDOSIS (MORQUIO SYNDROME)
E76.2
Other mucopolysaccharidoses [Morquio type]
Bone 2 btr.aim@institut-myologie.org 2008-07-06  
  160900
MYOTONIC DYSTROPHY 1 (STEINERT DISEASE)
G71.1
Myotonic disorders [Dystrophia myotonica, Steinert type]
Fat tissue 6 btr.aim@institut-myologie.org 2008-07-06  
  164300
OCULOPHARYNGEAL MUSCULAR DYSTROPHY

Muscular dystrophy [oculopharyngeal type]
Skeletal muscle 9 btr.aim@institut-myologie.org 2008-07-06  
  253300
SPINAL MUSCULAR ATROPHY, TYPE I, WERDNIG-HOFFMAN DISEASE
G12.0
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
Skeletal muscle 27 btr.aim@institut-myologie.org 2008-07-06  
  253400
SPINAL MUSCULAR ATROPHY, TYPE III, KUGELBERG-WELANDER DISEASE
G12.1
Other inherited spinal muscular atrophy, juvenile form, type III [Kugelberg-Welander]
Skeletal muscle 19 btr.aim@institut-myologie.org 2008-07-06  
  254090
ULLRICH CONGENITAL MUSCULAR DYSTROPHY, COLVI RELATED
G71.0
Congenital myopathies [Congenital muscular dystrophy type]
Skin 1 btr.aim@institut-myologie.org 2008-07-06  
  253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A; CALPAINOPATHY
G71.0
Muscular dystrophy
muscle 6 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  253300
SPINAL MUSCULAR ATROPHY, TYPE I, WERDNIG-HOFFMAN DISEASE
G12.0
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
Spinal cord 9 btr.aim@institut-myologie.org 2008-07-06  
  253550
SPINAL MUSCULAR ATROPHY, TYPE II, INTERMEDIATE TYPE
G12.1
Other inherited spinal muscular atrophy, childhood form, type II
Skin 3 btr.aim@institut-myologie.org 2008-07-06  
  176270
PRADER-WILLI SYNDROME; PWS

muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  253300
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
G12.0
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G12.2
Motor neuron disease
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G25.3
Myoclonus
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G60.9
Hereditary and idiopathic neuropathy, unspecified
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  300376
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
G71.0
Muscular dystrophy
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
G71.0
Muscular dystrophy
muscle 13 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D; ALPHA- SARCOGLYCANOP
G71.0
Muscular dystrophy
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  160900
DYSTROPHIA MYOTONICA 1
G71.1
Myotonic disorders
muscle 8 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  160800
THOMSEN BECKET DISEASE CLCN1 CHANNEL

muscle 2 maurizio.moggio@unimi.it 2008-06-23  
  310400
MYOTUBULAR MYOPATHY, MTMX

muscle 5 maurizio.moggio@unimi.it 2008-06-23  
 
FIBER TYPE DISPROPORTION

muscle 4 maurizio.moggio@unimi.it 2008-06-23  
 
DEGENERATIVE NEUROPATHY (HEREDITARY AND ACQUIRED)

nerve 368 maurizio.moggio@unimi.it 2008-06-23  
  604286
LGMD2E, BETA-SARCOGLYCANOPATHY

muscle 6 maurizio.moggio@unimi.it 2008-06-23  
  607801
LGMD1C, CAVEOLINOPATHY

muscle 33 maurizio.moggio@unimi.it 2008-06-23  
 
TUBULAR AGGREGATES

muscle 11 maurizio.moggio@unimi.it 2008-06-23  
 
MYOFIBRILLAR MYOPATHIES

muscle 7 maurizio.moggio@unimi.it 2008-06-23  
  131370
GLYCOGENOSIS TYPE XIII

muscle 1 maurizio.moggio@unimi.it 2008-06-23  
  545000
MERRF

muscle 23 maurizio.moggio@unimi.it 2008-06-23  
  551500
NARP

muscle 2 maurizio.moggio@unimi.it 2008-06-23  
 
OTHER MITOCHONDRIAL DISORDERS

muscle 205 maurizio.moggio@unimi.it 2008-06-23  
  253550
SPINAL MUSCULAR ATROPHY, SMA-1,2,3

muscle 52 maurizio.moggio@unimi.it 2008-06-23  
 
AMYOTROPHIC LATERAL SCLEROSIS

muscle 150 maurizio.moggio@unimi.it 2008-06-23  
 
MILD NON SPECIFIC NEUROGENIC SIGNS

muscle 710 maurizio.moggio@unimi.it 2008-06-23  
 
INFLAMMATORY NEUROPATHY

nerve 40 maurizio.moggio@unimi.it 2008-06-23  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Spinal cord 62 btr.aim@institut-myologie.org 2008-07-06  
 
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA
Q24.8
Other specified congenital malformations of heart
Heart 62 btr.aim@institut-myologie.org 2008-07-06  
  255800
CHONDRODYSTROPHIC MYOTONIA, SCHWARTZ-JAMPEL SYNDROME
G71.1
Myotonic disorders, chondrodystrophic type [Schwartz-Jampel syndrome]
Skeletal muscle 8 btr.aim@institut-myologie.org 2008-07-06  
  607855
CONGENITAL MUSCULAR DYSTROPHY, MEROSIN DEFICIENT
G71.2
Congenital myopathies [Congenital muscular dystrophy type]
Heart 1 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Nerve 10 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Spleen 8 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Kideney 25 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Colon 1 btr.aim@institut-myologie.org 2008-07-06  
  600737
INCLUSION BODY MYOPATHY 2
G72.8
Other specified myopathies [Inclusion body myopathy]
Skeletal muscle 3 btr.aim@institut-myologie.org 2008-07-06  
  245800
LAURENCE-MOON OR BARDET-BIEDL SYNDROME
Q87.8
Other specified congenital malformation syndromes [Laurence-Moon-Bardet-Biedl type]
Skeletal muscle 7 btr.aim@institut-myologie.org 2008-07-06  
 
E06.9
Thyroiditis, unspecified
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
E88.8
Other specified metabolic disorders
muscle 13 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  603041
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
E88.8
Other specified metabolic disorders
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G12.8
Other spinal muscular atrophies and related syndromes
muscle 6 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G40.5
Special epileptic syndromes
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  254800
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
G40.5
Special epileptic syndromes
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G63.2
Diabetic polyneuropathy
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G71.3
Mitochondrial myopathy, not elsewhere classified
muscle 14 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  609560
MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
G71.3
Mitochondrial myopathy, not elsewhere classified
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G72.3
Periodic paralysis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
H02.4
Ptosis of eyelid
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M79.1
Myalgia
muscle 13 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
R49
Voice disturbances
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD CARRIERS
G71.0
Muscular dystrophy (Duchenne type)
heart 2 luisa.politano@unina2.it 2008-06-30  
  232800
GLYCOGENOSIS TYPE VII

muscle 1 maurizio.moggio@unimi.it 2008-06-23  
  261670
GLYCOGENOSIS TYPE X

muscle 1 maurizio.moggio@unimi.it 2008-06-23  
 
MTDNA MULTIPLE DELETIONS

muscle 82 maurizio.moggio@unimi.it 2008-06-23  
 
PEO 3243 POINT MUTATIONS

muscle 8 maurizio.moggio@unimi.it 2008-06-23  
  201450
MCAD DEFICIENCY

muscle 1 maurizio.moggio@unimi.it 2008-06-23  
 
INFLAMMATORY MYOPATHIES

muscle 557 maurizio.moggio@unimi.it 2008-06-23  
 
INFLAMMATORY MYOPATHIES

muscle 356 maurizio.moggio@unimi.it 2008-06-23  
 
ESSENTIAL HYPERCKEMIA

muscle 136 maurizio.moggio@unimi.it 2008-06-23  
 
ISCHEMIC CARDIOPATHY

heart 4 maurizio.moggio@unimi.it 2008-06-23  
  545000
MERRF
G71.3
muscle 1 corrado.angelini@unipd.it 2008-07-04  
  551500
NARP

muscle 2 corrado.angelini@unipd.it 2008-07-04  
 
DISENDOCRINE MYOPATHY
E88.9
muscle 64 corrado.angelini@unipd.it 2008-07-04  
  229300
FRIEDREICH ATAXIA; FXA

muscle 3 corrado.angelini@unipd.it 2008-07-04  
  254210
CONGENITAL MYASTENIA

muscle 1 luisa.politano@unina2.it 2008-07-07  
  310200
DUCHENNE DYSTROPHY, DMD
G71.0
Muscular dystrophy
Musculoskeletal System 142 mmora@istituto-besta.it 2008-01-09  
  606822
CONGENITAL DYSTROPHY. POMGNT1
G71.2
Congenital myopathies
Musculoskeletal System 1 mmora@istituto-besta.it 2008-01-09  
 
THOMSEN/BECKER DISEASE CLCN1 CHANNEL
G71.1
Myotonic disorders
Musculoskeletal System 16 mmora@istituto-besta.it 2008-01-09  
  310400
MYOTUBULAR MYOPATHY, MTMX
G71.2
Congenital myopathies
Musculoskeletal System 1 mmora@istituto-besta.it 2008-01-09  
  313200
SPINAL BULBAR MUSCULAR ATROPHY, KENNEDY
G12.8
Other spinal muscular atrophies and related syndromes
Musculoskeletal System 2 mmora@istituto-besta.it 2008-01-09  
  602783
SPASTIC PARAPARESIS (PARAPLEGIN DEF.)
G11.4
Hereditary spastic paraplegia
Musculoskeletal System 6 mmora@istituto-besta.it 2008-01-09  
 
G71.2
Congenital myopathies
muscle 19 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  102770
MAD DEFICIENCY

muscle 32 maurizio.moggio@unimi.it 2008-06-23  
  201460
LCAD DEFICIENCY

muscle 6 maurizio.moggio@unimi.it 2008-06-23  
 
CRITICAL ILLNESS MYOPATHY

muscle 10 maurizio.moggio@unimi.it 2008-06-23  
 
DILATATIVE IDIOPATHIC CARDIOMYOPATHY

heart 5 maurizio.moggio@unimi.it 2008-06-23  
  602783
SPASTIC PARAPARESIS (PARAPLEGIN. DEF.)

nerve 1 maurizio.moggio@unimi.it 2008-06-23  
 
R82.1
Myoglobinuria
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  310200
DUCHENNE DYSTROPHY;DMD
G71.0
Muscular dystrophy (Duchenne type)
muscle 242 corrado.angelini@unipd.it 2008-07-04  
  310200
DUCHENNE/BECKER DYSTROPHY
G71.0
muscle 9 corrado.angelini@unipd.it 2008-07-04  
  310200
DMD CARRIER

muscle 62 corrado.angelini@unipd.it 2008-07-04  
  157550
MINICORE MYOPATHY

muscle 47 corrado.angelini@unipd.it 2008-07-04  
  607426
COQ10 DEFECT

muscle 1 corrado.angelini@unipd.it 2008-07-04  
  165500
OPTIC ATROPHY; OPA1

muscle 3 corrado.angelini@unipd.it 2008-07-04  
 
MITOCHONDRIAL MYOPATHY
G71.3
muscle 33 corrado.angelini@unipd.it 2008-07-04  
 
LIPID STORAGE MYOPATHY;LSM
G73.6
muscle 85 corrado.angelini@unipd.it 2008-07-04  
 
DERMATOMYOSITIS;DM
M33.1
Dermatomyositis;DM
muscle 50 corrado.angelini@unipd.it 2008-07-04  
 
CONGENITAL MYASTENIA;CMG
G70.2
muscle 3 corrado.angelini@unipd.it 2008-07-04  
 
PERIODIC PARALYSIS
G72.3
muscle 5 corrado.angelini@unipd.it 2008-07-04  
  313200
KENNEDY DISEASE; SBMA

muscle 9 corrado.angelini@unipd.it 2008-07-04  
 
AMYOTROPHIC LATERAL SCLEROSIS;ALS
G12.2
muscle 334 corrado.angelini@unipd.it 2008-07-04  
  253600
LGMD2A, CALPAINOPATHY
G71.0
Muscular dystrophy
Musculoskeletal System 20 mmora@istituto-besta.it 2008-01-09  
  607801
LGMD1C, CAVEOLINOPATHY
G71.0
Muscular dystrophy
Musculoskeletal System 4 mmora@istituto-besta.it 2008-01-09  
  310300
EDMD X-LINKED
G71.0
Muscular dystrophy
Musculoskeletal System 6 mmora@istituto-besta.it 2008-01-09  
  160900
MYOTONIC DYSTROPHY, STEINERT, DM1
G71.1
Myotonic disorders
Musculoskeletal system 41 mmora@istituto-besta.it 2008-01-09  
 
SCAPULO-PERONEAL DYSTROPHY
G71.0
Muscular dystrophy
Musculoskeletal System 23 mmora@istituto-besta.it 2008-01-09  
 
CENTRALCORE MYOPATHY
G71.2
Congenital myopathies
Musculoskeletal System 16 mmora@istituto-besta.it 2008-01-09  
 
MYASTHENIA GRAVIS
G70.0
Myasthenia gravis
Musculoskeletal, Hemic and Immune Systems 110 mmora@istituto-besta.it 2008-01-09  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Skeletal muscle 14 btr.aim@institut-myologie.org 2008-07-06  
  310200
DUCHENNE MUSCULAR DYSTROPHY
G71.0
Muscular dystrophy [Duchenne type]
Fat tissue 12 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Kideney 1 btr.aim@institut-myologie.org 2008-07-06  
  229300
FRIEDREICH'S ATAXIA
G11.1
Early-onset cerebellar ataxia [Friedreich's ataxia]
Skeletal muscle 30 btr.aim@institut-myologie.org 2008-07-06  
  154700
MARFAN'S SYNDROME, TYPE 1, FIBRILLINE-1 RELATED
Q87.4
Marfan's syndrome [type 1, fibrilline-1 related]
Skeletal muscle 42 btr.aim@institut-myologie.org 2008-07-06  
  160900
MYOTONIC DYSTROPHY 1 (STEINERT DISEASE)
G71.1
Myotonic disorders [Dystrophia myotonica, Steinert type]
Skeletal muscle 14 btr.aim@institut-myologie.org 2008-07-06  
  310200
DMD/BMD CARRIER

muscle 15 maurizio.moggio@unimi.it 2008-06-23  
  601287
LGMD2F, DELTA-SARCOGLYCANOPATHY

muscle 1 maurizio.moggio@unimi.it 2008-06-23  
  607855
MEROSINOPATHY, LAMA2

muscle 1 maurizio.moggio@unimi.it 2008-06-23  
  160900
MYOTONIC DYSTROPHY, STEINERT, DM1

muscle 48 maurizio.moggio@unimi.it 2008-06-23  
 
MINICORE MYOPATHY

muscle 1 maurizio.moggio@unimi.it 2008-06-23  
  607855
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
G71.2
Congenital myopathies (Muscular Dystrophy with primary Merosinopathy)
muscle 1 luisa.politano@unina2.it 2008-06-30  
  607155
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I
G71.0
Muscular dystrophy (LGMD 2I with mutation in FKRP)
muscle 5 luisa.politano@unina2.it 2008-06-30  
  310300
EMERY-DREIFUSS MUSCULAR DYSTROPHY,X-LINKED; EDMD1
G71.0
Muscular dystrophy (Emery-Dreifuss)
muscle 2 luisa.politano@unina2.it 2008-06-30  
  232300
GLYCOGEN STORAGE DISEASE II
E74.0
Glycogen storage disease (Type II)
muscle 3 luisa.politano@unina2.it 2008-06-30  
  251900
MITOCHONDRIAL DISEASES

muscle 13 luisa.politano@unina2.it 2008-06-30  
  117000
CENTRAL-CORE MYOPATHY;CCD

muscle 19 corrado.angelini@unipd.it 2008-07-04  
  182601
SPASTICA PARAPLEGIA, SPG4

muscle 4 corrado.angelini@unipd.it 2008-07-04  
 
CENTRONUCLEAR MYOPATHY
G71.2
Congenital myopathies [centronuclear type]
Skeletal muscle 5 btr.aim@institut-myologie.org 2008-07-06  
 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL TYPE
G60.0
Hereditary and idiopathic neuropathy
Skeletal muscle 8 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Lymph node 1 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Bone marrow 24 btr.aim@institut-myologie.org 2008-07-06  
  310100
BMD CARRIER

muscle 6 corrado.angelini@unipd.it 2008-07-04  
  608099
ALPHA-SARCOGLYCANOPATHY
G71.0
Muscular dystrophy (LGMD 2D)
muscle 33 corrado.angelini@unipd.it 2008-07-04  
  604286
BETA-SARCOGLYCANOPATHY
G71.0
Muscular dystrophy (LGMD 2E)
muscle 9 corrado.angelini@unipd.it 2008-07-04  
 
LIMB-GIRDLE DYSTROPHY;LGMD
G71.0
Muscular dystrophy
muscle 208 corrado.angelini@unipd.it 2008-07-04  
  159001
LAMINOPATHY; LMNA
G71.0
muscle 11 corrado.angelini@unipd.it 2008-07-04  
  602668
MYOTONIC DYSTROPHY; DM2
G71.1
Myotonic disorders (DM2)
muscle 16 corrado.angelini@unipd.it 2008-07-04  
  164300
OCULO-PHARYNGEAL;OPMD

muscle 16 corrado.angelini@unipd.it 2008-07-04  
 
DISTAL MYOPATHY
G71.2
muscle 10 corrado.angelini@unipd.it 2008-07-04  
  310400
MYOTUBULAR MYOPATHY; MTM1

muscle 2 corrado.angelini@unipd.it 2008-07-04  
  232300
GLYCOGENOSIS TYPE II

muscle 32 corrado.angelini@unipd.it 2008-07-04  
 
G09
Sequelae of inflammatory diseases of central nervous system
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G24.2
Idiopathic nonfamilial dystonia
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G35
Multiple sclerosis
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G40.3
Generalised idiopathic epilepsy and epileptic syndromes
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G58.7
Mononeuritis multiplex
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  118220
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
G60
Hereditary and idiopathic neuropathy
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G73.6
Myopathy in metabolic diseases
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  232300
GLYCOGEN STORAGE DISEASE II
G73.6
Myopathy in metabolic diseases
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G82
Paraplegia and tetraplegia
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M06.9
Rheumatoid arthritis, unspecified
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M33.2
Polymyositis
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
R29.8
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  253700
GAMMA-SARCOGLYCANOPATHY
G71.0
Muscular dystrophy (LGMD 2C)
muscle 12 corrado.angelini@unipd.it 2008-07-04  
  601287
DELTA-SARCOGLYCANOPATHY
G71.0
Muscular dystrophy (LGMD 2F)
muscle 1 corrado.angelini@unipd.it 2008-07-04  
  607801
CAVEOLINOPATHY
G71.0
Muscular dystrophy (LGMD 1C)
muscle 12 corrado.angelini@unipd.it 2008-07-04  
  253600
LGMD2A, CALPAINOPATHY

muscle 54 maurizio.moggio@unimi.it 2008-06-23  
  600899
LGMD2D, ALPHA-SARCOGLYCANOPATHY

muscle 6 maurizio.moggio@unimi.it 2008-06-23  
 
OTHER LGMD

muscle 54 maurizio.moggio@unimi.it 2008-06-23  
 
MORBO DI BASEDOW

muscle 2 maurizio.moggio@unimi.it 2008-06-23  
  232400
GLYCOGENOSIS TYPE III

muscle 9 maurizio.moggio@unimi.it 2008-06-23  
  535000
LEBER

muscle 4 maurizio.moggio@unimi.it 2008-06-23  
  540000
MELAS

muscle 24 maurizio.moggio@unimi.it 2008-06-23  
 
LIPID STORAGE MYOPATHY

muscle 36 maurizio.moggio@unimi.it 2008-06-23  
  313200
SPINAL BULBAR MUSCULAR ATROPHY,

muscle 52 maurizio.moggio@unimi.it 2008-06-23  
 
SECONDARY DILATATIVE CARDIOMYOPATHY

heart 3 maurizio.moggio@unimi.it 2008-06-23  
 
G72.8
Other specified myopathies
muscle 21 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M31.3
Wegener's granulomatosis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M31.9
Necrotising vasculopathy, unspecified
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
Q74.3
Arthrogryposis multiplex congenita
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  232600
MC ARDLE DISEASE

muscle 46 corrado.angelini@unipd.it 2008-07-04  
  540000
MELAS
G71.3
muscle 20 corrado.angelini@unipd.it 2008-07-04  
 
INCLUSION BODY MYOSITIS IBM
M33.9
Dermatopolymyositis, unspecified (Inclusion body myositis)
muscle 23 corrado.angelini@unipd.it 2008-07-04  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Brain 9 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Estomac 2 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Lymph nodes 2 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Spleen 4 btr.aim@institut-myologie.org 2008-07-06  
  606612
CONGENITAL DYSTROPHY. FKRP
G71.2
Congenital myopathies
Musculoskeletal System 4 mmora@istituto-besta.it 2008-01-09  
 
RESPIRATORY CHAIN DEFECTS
G71.3
Mitochondrial myopathy, not elsewhere classified
Musculoskeletal System 158 mmora@istituto-besta.it 2008-01-09  
 
MELAS/MERRF
G71.3
Mitochondrial myopathy, not elsewhere classified
Musculoskeletal System 37 mmora@istituto-besta.it 2008-01-09  
 
PEO/KSS
G71.3
Mitochondrial myopathy, not elsewhere classified
Musculoskeletal System 107 mmora@istituto-besta.it 2008-01-09  
 
LIPID STORAGE MYOPATHY
E75.6
Lipid storage disorder, unspecified
Musculoskeletal System 40 mmora@istituto-besta.it 2008-01-09  
 
POLYMYOSITIS
M33.2
Polymyositis
Musculoskeletal System 69 mmora@istituto-besta.it 2008-01-09  
 
DERMATOMYOSITIS
M33
Dermatopolymyositis
Musculoskeletal System 46 mmora@istituto-besta.it 2008-01-09  
  310200
DMD/BMD CARRIER
G71.0
Muscular dystrophy
Musculoskeletal System 65 mmora@istituto-besta.it 2008-01-09  
  170400
HYPOKALIEMIC PERIODIC PARALYSIS
G72.3
Periodic paralysis
Musculoskeletal System 12 mmora@istituto-besta.it 2008-01-09  
  164300
OCULO-PHARYNGEAL DYSTROPHY
G71.0
Muscular dystrophy
Musculoskeletal System 22 mmora@istituto-besta.it 2008-01-09  
 
DISTAL MYOPATHY
G71.0
Muscular dystrophy
Musculoskeletal System 18 mmora@istituto-besta.it 2008-01-09  
 
MINICORE MYOPATHY
G71.2
Congenital myopathies
Musculoskeletal System 7 mmora@istituto-besta.it 2008-01-09  
 
TUBULAR AGGREGATES
G71.2
Congenital myopathies
Musculoskeletal System 7 mmora@istituto-besta.it 2008-01-09  
  300257
GLYCOGENOSIS TYPE IIB, DANON
G74.0
Glycogen storage disease
Musculoskeletal System 3 mmora@istituto-besta.it 2008-01-09  
 
F83
Mixed specific developmental disorders
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G40.9
Epilepsy, unspecified
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G70.9
Myoneural disorder, unspecified
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
G71.0
Muscular dystrophy
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  607855
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
G71.2
Congenital myopathies
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
R79.8
Other specified abnormal findings of blood chemistry
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Aorta 3 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Colon 4 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Bladder 5 btr.aim@institut-myologie.org 2008-07-06  
 
E06.3
Autoimmune thyroiditis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G12.9
Spinal muscular atrophy, unspecified
muscle 4 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G25.8
Other specified extrapyramidal and movement disorders
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G40.0
Localisation-related (focal) (partial) idiopathic epilepsy and epileptic syndromes with seizures of
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G62.9
Polyneuropathy, unspecified
muscle 6 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  201200
ACROGERIA
E34.8
Other specified endocrine disorders [Acrogeria]
Skeletal muscle 3 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Heart 8 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Liver 7 btr.aim@institut-myologie.org 2008-07-06  
  105400
AMYOTROPHIC LATERAL SCLEROSIS
G12.2
Motor neuron disease
Kideney 2 btr.aim@institut-myologie.org 2008-07-06  
 
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA
Q24.8
Other specified congenital malformations of heart
Skeletal muscle 2 btr.aim@institut-myologie.org 2008-07-06  
 
CEREBRAL PALSY
G80
Cerebral palsy
Skeletal muscle 9 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Colon 1 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Fat tissue 6 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Skeletal muscle 999 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Placenta 8 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Brain 10 btr.aim@institut-myologie.org 2008-07-06  
 
EPILEPSY
G40.9
Epilepsy, unspecified
Spleen 2 btr.aim@institut-myologie.org 2008-07-06  
  158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
G71.0
Muscular dystrophy [facioscapulohumeral type]
Skeletal muscle 338 btr.aim@institut-myologie.org 2008-07-06  
  192600
HYPERTROPHIC CARDIOMYOPATHY
I42.1
Hypertrophic cardiomyopathy
Skeletal muscle 95 btr.aim@institut-myologie.org 2008-07-06  
  255320
MULTIMINICORE MYOPATHY
G71.2
Congenital myopathies [multiminicore type]
Skeletal muscle 34 btr.aim@institut-myologie.org 2008-07-06  
  160900
MYOTONIC DYSTROPHY 1 (STEINERT DISEASE)
G71.1
Myotonic disorders [Dystrophia myotonica, Steinert type]
Skin 11 btr.aim@institut-myologie.org 2008-07-06  
  253600
CALPAINOPATHY
G71.0
Muscular dystrophy (LGMD 2A)
muscle 95 corrado.angelini@unipd.it 2008-07-04  
  158900
FACIO-SCAPULO-HUMERAL;FSHD1A
G71.0
Muscular dystrophy
muscle 67 corrado.angelini@unipd.it 2008-07-04  
  160800
THOMSEN DISEASE;TD

muscle 17 corrado.angelini@unipd.it 2008-07-04  
 
SCAPULO-PERONEAL
G71.2
muscle 33 corrado.angelini@unipd.it 2008-07-04  
  256030
NEMALINE MYOPATHY; NEM2

muscle 2 corrado.angelini@unipd.it 2008-07-04  
  255310
FIBER TYPE DISPROPORTION

muscle 60 corrado.angelini@unipd.it 2008-07-04  
  160565
TUBULAR AGGREGATES

muscle 26 corrado.angelini@unipd.it 2008-07-04  
  300257
DANON DISEASE; LAMP2

muscle 4 corrado.angelini@unipd.it 2008-07-04  
  151900
MULTIPLE LIPOMATOSIS;LMS

muscle 11 corrado.angelini@unipd.it 2008-07-04  
 
MYASTHENIA GRAVIS;MG
G70.0
Myasthenia gravis;MG
muscle 126 corrado.angelini@unipd.it 2008-07-04  
  188580
THYROTOXIC PERIODIC PARALYSIS

muscle 2 corrado.angelini@unipd.it 2008-07-04  
  253400
KUGELBERG-WELANDER;SMA3

muscle 42 corrado.angelini@unipd.it 2008-07-04  
 
CHARCOT-MARIE-TOOTH DISEASE
G60.0
muscle 55 corrado.angelini@unipd.it 2008-07-04  
  162500
HNPP

muscle 2 corrado.angelini@unipd.it 2008-07-04  
  253601
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
G71.0
Muscular dystrophy
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G73.7
Myopathy other diseases classified elsewhere
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M33
Dermatopolymyositis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M43.8
Other specified deforming dorsopathies
muscle 2 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
P22.9
Respiratory distress of newborn, unspecified
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  312750
RETT SYNDROME
F84.2
Rett's syndrome
Skeletal muscle 17 btr.aim@institut-myologie.org 2008-07-06  
  253550
SPINAL MUSCULAR ATROPHY, TYPE II, INTERMEDIATE TYPE
G12.1
Other inherited spinal muscular atrophy, childhood form, type II
Skeletal muscle 129 btr.aim@institut-myologie.org 2008-07-06  
  310200
DUCHENNE DYSTROPHY, DMD

muscle 155 maurizio.moggio@unimi.it 2008-06-23  
  254090
ULLRICH CONGENITAL MUSCULAR DYSTROPHY, COLVI RELATED
G71.0
Congenital myopathies [Congenital muscular dystrophy type]
Skeletal muscle 10 btr.aim@institut-myologie.org 2008-07-06  
  158900
FACIO-SCAPULO-HUMERAL, FSHD1

muscle 52 maurizio.moggio@unimi.it 2008-06-23  
 
D76.2
Haemophagocytic syndrome, infection-associated
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  253400
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
G12.1
Other inherited spinal muscular atrophy
muscle 3 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G71.0
Muscular dystrophy
muscle 44 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G71.1
Myotonic disorders
muscle 16 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
G71.0
Muscular dystrophy (Duchenne type)
muscle 63 luisa.politano@unina2.it 2008-06-30  
  310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD CARRIERS
G71.0
Muscular dystrophy (Duchenne type)
muscle 2 luisa.politano@unina2.it 2008-06-30  
  170400
HYPOKALIEMIC PERIODIC PARALYSIS

muscle 6 maurizio.moggio@unimi.it 2008-06-23  
  256030
NEMALINE MYOPATHY

muscle 2 maurizio.moggio@unimi.it 2008-06-23  
  305900
G6PD DEFICIENCY

muscle 11 maurizio.moggio@unimi.it 2008-06-23  
 
IBM

muscle 38 maurizio.moggio@unimi.it 2008-06-23  
 
CRITICAL ILLNESS MYOPATHY

muscle 9 maurizio.moggio@unimi.it 2008-06-23  
 
NORMAL MUSCLE BIOPSY

muscle 1011 maurizio.moggio@unimi.it 2008-06-23  
 
NORMAL NERVE BIOPSY

nerve 21 maurizio.moggio@unimi.it 2008-06-23  
  607855
CONGENITAL MUSCULAR DYSTROPHY, MEROSIN DEFICIENT
G71.2
Congenital myopathies [Congenital muscular dystrophy type]
Skeletal muscle 89 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Bladder 2 btr.aim@institut-myologie.org 2008-07-06  
  310200
DUCHENNE MUSCULAR DYSTROPHY
G71.0
Muscular dystrophy [Duchenne type]
Skin 4 btr.aim@institut-myologie.org 2008-07-06  
  608099
LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2D (LGMD2D), ALPHA SARCO-GLYCAN RELATED
G71.0
Muscular dystrophy [Limb girdle type, subtype 2D, Alpha SarcoGlycan Related
Skeletal muscle 15 btr.aim@institut-myologie.org 2008-07-06  
 
MUCOPLOLYSACCHARIDOSIS (MORQUIO SYNDROME)
E76.2
Other mucopolysaccharidoses [Morquio type]
Skeletal muscle 4 btr.aim@institut-myologie.org 2008-07-06  
  607155
LIMB-GIRDLE DYSTROPHY 2I;LGMD2I
G71.0
Muscular dystrophy (LGMD 2I)
muscle 17 corrado.angelini@unipd.it 2008-07-04  
  600536
CMD; ITGA7

muscle 3 corrado.angelini@unipd.it 2008-07-04  
  160900
MYOTONIC DYSTROPHY;DM1
G71.1
Myotonic disorders (DM1)
muscle 110 corrado.angelini@unipd.it 2008-07-04  
 
CENTRONUCLEAR MYOPATHY
G71.2
Myotubular myaopathy
muscle 30 corrado.angelini@unipd.it 2008-07-04  
  220110
COX DEFECT

muscle 11 corrado.angelini@unipd.it 2008-07-04  
  270550
SPASTIC ATAXIA; SACS

muscle 2 corrado.angelini@unipd.it 2008-07-04  
  530000
PEO, KSS

muscle 113 corrado.angelini@unipd.it 2008-07-04  
 
POLYMYOSITIS;PM
M33.2
Polymyositis
muscle 73 corrado.angelini@unipd.it 2008-07-04  
 
SPINOCEREBELLAR/CEREBELLAR ATAXIA
G11
Hereditary ataxia
Musculoskeletal System 12 mmora@istituto-besta.it 2008-01-09  
 
NEMALINE MYOPATHY
G71.2
Congenital myopathies (Nemaline)
muscle 14 corrado.angelini@unipd.it 2008-07-04  
  254200
MYASTHENIA GRAVIS
G70.0
Myasthenia gravis
Uterus 11 btr.aim@institut-myologie.org 2008-07-06  
 
CONNECTIVITIS
M35
Other systemic involvement of connective tissue
Musculoskeletal System 12 mmora@istituto-besta.it 2008-01-09  
 
DISENDOCRINE MYOPATHY
G73.5*
Myopathy in endocrine diseases
Musculoskeletal System 8 mmora@istituto-besta.it 2008-01-09  
  253550
SPINAL MUSCULAR ATROPHY, SMA-1,2,3
G12
Spinal muscular atrophy and related syndromes
Musculoskeletal System 84 mmora@istituto-besta.it 2008-01-09  
 
ALS/ MOTOR NEURON DISEASE
G12.2
Motor neuron disease
Musculoskeletal System 72 mmora@istituto-besta.it 2008-01-09  
 
UNSPECIFIED MYOPATHY
G72.9
Myopathy, unspecified
Heart 22 btr.aim@institut-myologie.org 2008-07-06  
 
UNSPECIFIED MYOPATHY
G72.9
Myopathy, unspecified
Skeletal muscle 48 btr.aim@institut-myologie.org 2008-07-06  
 
G71.8
Other primary disorders of muscles
muscle 8 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
G72.9
Myopathy, unspecified
muscle 5 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
I42.4
Endocardial fibroelastosis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M34.8
Other forms of systemic sclerosis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
M45
Ankylosing spondylitis
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
 
R25.2
Cramp and spasm
muscle 1 marija.meznaric-petrusa@mf.uni-lj.si 2008-06-29  
  300376
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
G71.0
Muscular dystrophy (Becker type )
muscle 17 luisa.politano@unina2.it 2008-06-30  
  255310
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
G71.2
Congenital myopathies (Congenital fiber-type disproportion (CFTD)
muscle 1 luisa.politano@unina2.it 2008-06-30  
  253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
G71.0
Muscular dystrophy (LGMD 2A)
muscle 14 luisa.politano@unina2.it 2008-06-30  
  253700
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
G71.0
Muscular dystrophy (LGMD 2C)
muscle 6 luisa.politano@unina2.it 2008-06-30  
  145600
MALIGNANT HYPERTHERMIA
T88.3
Malignant hyperthermia
muscle 8 luisa.politano@unina2.it 2008-06-30  
  160900
DYSTROPHIA MYOTONICA 1
G71.1
Myotonic disorders (DM1)
muscle 3 luisa.politano@unina2.it 2008-06-30  
  212160
CARNITINE DEFICIENCY

muscle 1 luisa.politano@unina2.it 2008-06-30  
  253400
SPINAL MUSCULAR ATROPHY, TYPE II-III; SMA2-3

muscle 1 luisa.politano@unina2.it 2008-06-30  
  160800
DYSTROPHIA MYOTONICA; AUTOSOMAL DOMINANT; THOMSEN DISEASE

muscle 1 luisa.politano@unina2.it 2008-06-30  
  253300
WERDNIG-HOFFMANN; SMA1

muscle 6 corrado.angelini@unipd.it 2008-07-04  
  117000
CENTRAL CORE DISEASE
G71.2
Congenital myopathies [central core]
Skeletal muscle 53 btr.aim@institut-myologie.org 2008-07-06  
  607855
CONGENITAL MUSCULAR DYSTROPHY, MEROSIN DEFICIENT
G71.2
Congenital myopathies [Congenital muscular dystrophy type]
Skin 19 btr.aim@institut-myologie.org 2008-07-06  
 
CONTROL

Control
Spinal cord 15 btr.aim@institut-myologie.org 2008-07-06  
  300376
BECKER DYSTROPHY, BMD
G71.0
Muscular dystrophy
Musculoskeletal System 155 mmora@istituto-besta.it 2008-01-09  
  600899
LGMD2D, ALPHA-SARCOGLYCANOPATHY
G71.0
Muscular dystrophy
Musculoskeletal System 6 mmora@istituto-besta.it 2008-01-09  
  159001
LGMD1B, LMNA
G71.0
Muscular dystrophy
Musculoskeletal System 5 mmora@istituto-besta.it 2008-01-09  
  607423
CONGENITAL DYSTROPHY. POMT1
G71.2
Congenital myopathies
Musculoskeletal System 4 mmora@istituto-besta.it 2008-01-09  
 
FIBER TYPE DISPROPORTION
G71.2
Congenital myopathies
Musculoskeletal System 17 mmora@istituto-besta.it 2008-01-09  
  232300
GLYCOGENOSIS TYPE II, POMPE
G74.0
Glycogen storage disease
Musculoskeletal System 34 mmora@istituto-besta.it 2008-01-09  
  232500
GLYCOGENOSIS TYPE IV
G74.0
Glycogen storage disease
Musculoskeletal System 3 mmora@istituto-besta.it 2008-01-09  

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Last updated on 2008/08/27