 |
|
 |
| |
|
|
|
|
|
|
|
|
| |
310200
DUCHENNE DYSTROPHY, DMD |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
25 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
253601
LGMD2B, DYSFERLINOPATHY |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
253600
LGMD2A, CALPAINOPATHY |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
300376
BECKER DYSTROPHY, BMD |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
23 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
310200
DMD/BMD CARRIER |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
12 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
600899
LGMD2D, ALPHA-SARCOGLYCANOPATHY |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
310300
EDMD X-LINKED |
G71.0
Muscular dystrophy |
Integumentary System |
fibroblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
607155
LGMD2I, FKRP |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
607801
LGMD1C, CAVEOLINOPATHY |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
607423
CONGENITAL DYSTROPHY. POMT1 |
G71.2
Congenital myopathies |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
607855
MEROSINOPATHY, LAMA2 |
G71.2
Congenital myopathies |
Musculoskeletal System |
myoblasts |
4 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
606612
CONGENITAL DYSTROPHY. FKRP |
G71.2
Congenital myopathies |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
606822
CONGENITAL DYSTROPHY. POMGNT1 |
G71.2
Congenital myopathies |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
158900
FACIO-SCAPULO-HUMERAL, FSHD1 |
G71.0
Muscular dystrophy |
Musculoskeletal |
myoblasts |
12 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
160900
MYOTONIC DYSTROPHY, STEINERT, DM1 |
G71.1
Myotonic disorders |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
602668
MYOTONIC DYSTROPHY TYPE 2, PROMM, DM2 |
G71.1
Myotonic disorders |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
THOMSEN/BECKER DISEASE CLCN1 CHANNEL |
G71.1
Myotonic disorders |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
170400
HYPOKALIEMIC PERIODIC PARALYSIS |
G72.3
Periodic paralysis |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
SCAPULO-PERONEAL DYSTROPHY |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
164300
OCULO-PHARYNGEAL DYSTROPHY |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
DISTAL MYOPATHY |
G71.0
Muscular dystrophy |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
MINICORE MYOPATHY |
G71.2
Congenital myopathies |
Musculoskeletal myoblasts |
|
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
NEMALINE MYOPATHY |
G71.2
Congenital myopathies |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
CENTRONUCLEAR MYOPATHY |
G71.2
Congenital myopathies |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
FIBER TYPE DISPROPORTION |
G71.2
Congenital myopathies |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
232300
GLYCOGENOSIS TYPE II, POMPE |
G74.0
Glycogen storage disease |
Musculoskeletal System |
myoblasts |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
232600
GLYCOGENOSIS TYPE V, MC ARDLE |
G74.0
Glycogen storage disease |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
RESPIRATORY CHAIN DEFECTS |
G71.3
Mitochondrial myopathy, not elsewhere classified |
Musculoskeletal System |
myoblasts |
4 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
MELAS/MERRF |
G71.3
Mitochondrial myopathy, not elsewhere classified |
Musculoskeletal System |
myoblasts |
4 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
PEO/KSS |
G71.3
Mitochondrial myopathy, not elsewhere classified |
Musculoskeletal System |
myoblasts |
6 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
LIPID STORAGE MYOPATHY |
E75.6
Lipid storage disorder, unspecified |
Musculoskeletal System |
myoblasts |
4 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
255110
CPT DEFICIENCY |
E71.3
Disorders of fatty-acid metabolism |
Hemic and Immune System |
|
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
POLYMYOSITIS |
M33.2
Polymyositis |
Musculoskeletal System |
myoblasts |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
DERMATOMYOSITIS |
M33
Dermatopolymyositis |
Musculoskeletal System |
myoblasts |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
INCLUSION BODY MYOSITIS |
G72.4
Inflammatory myopathy, not elsewhere classified |
Musculoskeletal System |
myoblasts |
4 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
CONNECTIVITIS |
M35
Other systemic involvement of connective tissue |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
253550
SPINAL MUSCULAR ATROPHY, SMA-1,2,3 |
G12
Spinal muscular atrophy and related syndromes |
Musculoskeletal System |
myoblasts |
6 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
313200
SPINAL BULBAR MUSCULAR ATROPHY, KENNEDY |
G12.8
Other spinal muscular atrophies and related syndromes |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
ALS/ MOTOR NEURON DISEASE |
G12.2
Motor neuron disease |
Musculoskeletal System |
myoblasts |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
602783
SPASTIC PARAPARESIS (PARAPLEGIN DEF.) |
G11.4
Hereditary spastic paraplegia |
Musculoskeletal System |
myoblasts |
5 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
229300
FRIEDRICH ATAXIA |
G11.1
Early-onset cerebellar ataxia |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
CONTROLS |
|
Musculoskeletal System |
myoblasts |
60 |
mmora@istituto-besta.it |
2008-01-09 |
|
| |
176270
PRADER-WILLI SYNDROME; PWS |
Q 87.1
Prader Willi syndrome |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
231000
GAUCHER DISEASE, TYPE III |
E 75.2
Gaucher, disease |
Blood |
Lymphocytes |
3 |
mposada@isciii.es |
2008-05-30 |
|
| |
182600
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A, |
G 11.4
Strumpell-Lorrain syndrome |
Blood |
Lymphocytes |
51 |
mposada@isciii.es |
2008-05-30 |
|
| |
HEREDITARY SPASTIC PARAPLEGIA |
G 11.4
Hereditary spastic paraplegia |
Blood |
Lymphocytes |
49 |
mposada@isciii.es |
2008-05-30 |
|
| |
109650
BEHCET SYNDROME |
M 35.1
Bechet's Disease |
Blood |
Lymphocytes |
25 |
mposada@isciii.es |
2008-05-30 |
|
| |
151800
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL |
E 88.2
Lipomatosis |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
CHRONIC FATIGUE SYNDROME |
G 93.3
Chronic Fatigue Syndrome |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
PLANE LIQUEN |
G 71.2
Plane Liquen |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
608710
WEGENER GRANULOMATOSIS |
E 75.2
Wegener's Granulomatosis |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
106100
ANGIOEDEMA, HEREDITARY; HAE/ANGIONEUROTIC EDEMA |
D 84.1
C1-inhibidor deficiency |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
260400
SHWACHMAN-DIAMOND SYNDROME; SDS |
Schwasman syndrome |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE, DMD |
G 71.0
Muscular Dystrophy |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
|
K 22.6
Polymyosistis |
Blood |
Lymphocytes |
3 |
mposada@isciii.es |
2008-05-30 |
|
| |
143100
HUNTINGTON DISEASE; HD |
G 10
Huntington?s Disease |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
101400
ACTH DEFICIENCY |
E 27.1
ACTH deficiency |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
137580
DYSTROPHIA MYOTONICA 1 |
G 71.1
Steinert's Disease |
Blood |
Lymphocytes |
7 |
mposada@isciii.es |
2008-05-30 |
|
| |
607685
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES |
Hypereosinophilic syndrome |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
107400
ALPHA-1-ANTITRYPSIN DEFICIENCY |
E 28.2
Alpha-1-antitrypsin deficit |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
181750
SCLERODERMA |
M 34
Scleroderma |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
160900
GILLES DE LA TOURETTE SYNDROME; GTS |
F 95.2
Tourette Syndrome |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
HIDROSADENITIS CHRONIC |
L 73.2
Hidrosadenitis chronic |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
219700
CYSTIC FIBROSIS; CF |
E 84
Fibrosis quistic |
Blood |
Lymphocytes |
5 |
mposada@isciii.es |
2008-05-30 |
|
| |
186700
SYRINGOMYELIA |
G 95.0
Syringomyelia |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
311770
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, INCLUDED |
D 59.5
Nocturnal paroxistic hemoglobinuria |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
109150
MACHADO JOSEPH DISEASE, MJD |
|
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
118220
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A |
G 60.0
Charcot-Marie-Tooth Disease |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
270550
SPASTIC ATAXIA |
G 11.4
Hereditary spastic paraplegia |
Blood |
Lymphocytes |
5 |
mposada@isciii.es |
2008-05-30 |
|
| |
108500
EPISODIC ATAXIA |
G 11.2
Late-onset cerebellar ataxia |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
229300
FRIEDREICH ATAXIA 1, FRDA |
G 11.1
Cerebellar ataxia, Friedreich |
Blood |
Lymphocytes |
17 |
mposada@isciii.es |
2008-05-30 |
|
| |
212840
CEREBELLAR ATAXIA |
G 11.3
Cerebellar ataxia |
Blood |
Lymphocytes |
11 |
mposada@isciii.es |
2008-05-30 |
|
| |
181000
SARCOIDOSIS |
D 86
Sarcoidosis |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
|
M 89.0
Sudeck's dystrophy |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
202400
HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED |
D 68.8
Hypofibrinogenemia |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
CONTROL |
|
Blood |
Lymphocytes |
525 |
mposada@isciii.es |
2008-05-30 |
|
| |
204000
LEBER CONGENITAL AMAUROSIS |
H35.5
Leber's Congenital Amaurosis |
Blood |
Lymphocytes |
1 |
mposada@isciii.es |
2008-05-30 |
|
| |
TOXIC OIL SYNDROME |
Toxic Oil Syndrome |
Blood |
Lymphocytes |
3717 |
mposada@isciii.es |
2008-05-30 |
|
| |
146750
ICHTHYOSIS, LAMELLAR |
Q80.2
ICHTHYOSIS, LAMELLAR Q80.2 |
Blood |
Lymphocytes |
12 |
mposada@isciii.es |
2008-05-30 |
|
| |
242100
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS |
Q 80
Congenital ichthyosis |
Blood |
Lymphocytes |
4 |
mposada@isciii.es |
2008-05-30 |
|
| |
146800
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS |
Q80.3
Congenital bullous ichthyosiform erythroderma |
Blood |
Lymphocytes |
4 |
mposada@isciii.es |
2008-05-30 |
|
| |
146700
ICHTHYOSIS VULGARIS |
Q80.0
Ichthyosis vulgaris |
Blood |
Lymphocytes |
2 |
mposada@isciii.es |
2008-05-30 |
|
| |
|
Control Ichthyosis |
Blood |
Lymphocytes |
28 |
mposada@isciii.es |
2008-05-30 |
|
| |
300376
BECKER DYSTROPHY, BMD |
|
muscle |
|
30 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310200
DMD/BMD CARRIER |
|
muscle |
|
3 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253600
LGMD2A, CALPAINOPATHY |
|
muscle |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310200
DUCHENNE DYSTROPHY, DMD |
|
muscle |
|
54 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
604286
LGMD2E, BETA-SARCOGLYCANOPATHY |
|
muscle |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
607855
MEROSINOPATHY, LAMA2 |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253700
LGMD2C, GAMMA-SARCOGLYCANOPATHY |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
607801
LGMD1C, CAVEOLINOPATHY |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
160900
MYOTONIC DYSTROPHY, STEINERT, DM1 |
|
muscle |
|
3 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
164300
OCULO-PHARYNGEAL |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
601287
LGMD2F, DELTA-SARCOGLYCANOPATHY |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
158900
FACIO-SCAPULO-HUMERAL, FSHD1 |
|
muscle |
|
3 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
600899
LGMD2D, ALPHA-SARCOGLYCANOPATHY |
|
muscle |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253601
LGMD2B, DYSFERLINOPATHY |
|
muscle |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
607155
LGMD2I, FKRP |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
CONGENITAL DYSTROPHIES |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
OTHER LGMD |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
170400
HYPOKALIEMIC PERIODIC PARALYSIS |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
TUBULAR AGGREGATES |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
256030
NEMALINE MYOPATHY |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MINICORE MYOPATHY |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MYOFIBRILLAR MYOPATHIES |
|
muscle |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232300
GLYCOGENOSIS TYPE II, INCLUDING POMPE |
|
muscle |
|
10 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232400
GLYCOGENOSIS TYPE III |
|
muscle |
|
10 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310400
MYOTUBULAR MYOPATHY, MTMX |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
117000
CENTRALCORE MYOPATHY |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
FIBER TYPE DISPROPORTION |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232600
GLYCOGENOSIS TYPE V, MC ARDLE |
|
muscle |
|
10 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232800
GLYCOGENOSIS TYPE VII |
|
muscle |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
131370
GLYCOGENOSIS TYPE XIII |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
261670
GLYCOGENOSIS TYPE X |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
535000
LEBER |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
305900
G6PD DEFICIENCY |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
545000
MERRF |
|
muscle |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
102770
MAD DEFICIENCY |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MTDNA MACRODELETIONS |
|
muscle |
|
25 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
551500
NARP |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
540000
MELAS |
|
muscle |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
PEO 3243 POINT MUTATIONS |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MTDNA DEPLETION |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MTDNA MULTIPLE DELETIONS |
|
muscle |
|
30 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
OTHER MTDNA POINT MUTATIONS |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
OTHER MITOCHONDRIAL DISORDERS |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
255110
CPT DEFICIENCY |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
INFLAMMATORY MYOPATHIES |
|
muscle |
|
20 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
201460
LCAD DEFICIENCY |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
ALS/MOTOR NEURON DISEASE |
|
muscle |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
LIPID STORAGE MYOPATHY |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
CRITICAL ILLNESS MYOPATHY |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MYASTHENIA GRAVIS |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MILD NON SPECIFIC NEUROGENIC SIGNS |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
IBM |
|
muscle |
|
4 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253550
SPINAL MUSCULAR ATROPHY, SMA-1,2,3 |
|
muscle |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
201450
MCAD DEFICIENCY |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MALIGNANT HYPERTHERMIA |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MILD NON SPECIFIC MYOPATHIC SIGNS |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
ESSENTIAL HYPERCKEMIA |
|
muscle |
|
27 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
NORMAL MUSCLE BIOPSY |
|
muscle |
|
68 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253601
LGMD2B, DYSFERLINOPATHY |
|
fibroblast |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
607801
LGMD1C, CAVEOLINOPATHY |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
600899
LGMD2D, ALPHA-SARCOGLYCANOPATHY |
|
fibroblast |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
604286
LGMD2E, BETA-SARCOGLYCANOPATHY |
|
fibroblast |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253700
LGMD2C, GAMMA-SARCOGLYCANOPATHY |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
602783
SPASTIC PARAPARESIS (PARAPLEGIN. DEF.) |
|
muscle |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310200
DUCHENNE DYSTROPHY, DMD |
|
fibroblast |
|
32 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
607155
LGMD2I, FKRP |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
OTHER LGMD |
|
fibroblast |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
S. OF DOWN |
|
muscle |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
300376
BECKER DYSTROPHY, BMD |
|
fibroblast |
|
21 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253600
LGMD2A, CALPAINOPATHY |
|
fibroblast |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
601287
LGMD2F, DELTA-SARCOGLYCANOPATHY |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310200
DMD/BMD CARRIER |
|
fibroblast |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
CONGENITAL DYSTROPHIES |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
158900
FACIO-SCAPULO-HUMERAL, FSHD1 |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
607855
MEROSINOPATHY, LAMA2 |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MINICORE MYOPATHY |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
310400
MYOTUBULAR MYOPATHY, MTMX |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
170400
HYPOKALIEMIC PERIODIC PARALYSIS |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
164300
OCULO-PHARYNGEAL |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
FIBER TYPE DISPROPORTION |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
117000
CENTRALCORE MYOPATHY |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
256030
NEMALINE MYOPATHY |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
160900
MYOTONIC DYSTROPHY, STEINERT, DM1 |
|
fibroblast |
|
2 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
TUBULAR AGGREGATES |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232300
GLYCOGENOSIS TYPE II, INCLUDING POMPE |
|
fibroblast |
|
20 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
305900
G6PD DEFICIENCY |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MYOFIBRILLAR MYOPATHIES |
|
fibroblast |
|
3 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232600
GLYCOGENOSIS TYPE V, MC ARDLE |
|
fibroblast |
|
10 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
131370
GLYCOGENOSIS TYPE XIII |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
261670
GLYCOGENOSIS TYPE X |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MTDNA MULTIPLE DELETIONS |
|
fibroblast |
|
30 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232400
GLYCOGENOSIS TYPE III |
|
fibroblast |
|
10 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MTDNA MACRODELETIONS |
|
fibroblast |
|
24 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
535000
LEBER |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
232800
GLYCOGENOSIS TYPE VII |
|
fibroblast |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
102770
MAD DEFICIENCY |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
540000
MELAS |
|
fibroblast |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
551500
NARP |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
201450
MCAD DEFICIENCY |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
INFLAMMATORY MYOPATHIES |
|
fibroblast |
|
18 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
OTHER MTDNA POINT MUTATIONS |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
OTHER MITOCHONDRIAL DISORDERS |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
545000
MERRF |
|
fibroblast |
|
5 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MTDNA DEPLETION |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
IBM |
|
fibroblast |
|
3 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
CRITICAL ILLNESS MYOPATHY |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
PEO 3243 POINT MUTATIONS |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
255110
CPT DEFICIENCY |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
LIPID STORAGE MYOPATHY |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
201460
LCAD DEFICIENCY |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
253550
SPINAL MUSCULAR ATROPHY, SMA-1,2,3 |
|
fibroblast |
|
12 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MILD NON SPECIFIC MYOPATHIC SIGNS |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MALIGNANT HYPERTHERMIA |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
ESSENTIAL HYPERCKEMIA |
|
fibroblast |
|
59 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
NORMAL MUSCLE BIOPSY |
|
fibroblast |
|
80 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
ALS/MOTOR NEURON DISEASE |
|
fibroblast |
|
9 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
602783
SPASTIC PARAPARESIS (PARAPLEGIN. DEF.) |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MYASTHENIA GRAVIS |
|
fibroblast |
|
1 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
MILD NON SPECIFIC NEUROGENIC SIGNS |
|
fibroblast |
|
|
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
S. OF DOWN |
|
fibroblast |
|
36 |
maurizio.moggio@unimi.it |
2008-06-23 |
|
| |
225750
AICARDI-GOUTIERES-SYNDROME |
Q02
Microcephaly (Aicardi-Goutieres-Syndrom) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
M33.1
Other dermatomyositis (Jo-1-antisynthetase-syndrom) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
117000
CENTRALCORE MYOPATHY |
G71.2
Congenital myopathies (Central core disease) |
muscle |
myoblasts |
7 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
G71.3
Mitochondrial myopathy, not elsewhere classified (Respiratory Chain deficiency) |
muscle |
myoblasts |
62 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
135700
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1 |
|
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
G71.2
Congenital myopathies (centronuclear) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
607855
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
G71.2
Congenital myopathies (Muscular Dystrophy with merosin deficiency) |
muscle |
myoblasts |
6 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
H49.4
Progressive external ophthalmoplegia (CPEO) |
muscle |
myoblasts |
15 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
M33.1
other Dermatomyositis |
muscle |
myoblasts |
38 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
G71.0
Muscular dystrophy (Carrier of MD Duchenne) |
muscle |
myoblasts |
8 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A |
G71.0
Muscular dystrophy |
muscle |
myoblasts |
10 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
232300
GLYCOGEN STORAGE DISEASE II |
E74.0
Glycogen storage disease (Type II) |
muscle |
myoblasts |
15 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
G71.0
Muscular dystrophy (Dystrophinopathy not specified) |
muscle |
myoblasts |
8 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
232600
GLYCOGEN STORAGE DISEASE V |
E74.0
Glycogen storage disease (Type V) |
muscle |
myoblasts |
4 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
232500
GLYCOGEN STORAGE DISEASE IV |
E74.0
Glycogen storage disease (Type IV) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
600737
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2 |
G71.8
Other primary disorders of muscles (h-IBM with GNE mutation ) |
muscle |
myoblasts |
4 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
607259
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 |
G11.4
Hereditary spastic paraplegia |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
530000
KEARNS-SAYRE SYNDROME; KSS |
H49.8
Other paralytic strabismus (Kearns-Sayre syndrome ) |
muscle |
myoblasts |
4 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
M33.9
Dermatopolymyositis, unspecified (Inclusion body myositis) |
muscle |
myoblasts |
23 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
G71.8
Other primary disorders of muscles (h-IBM) |
muscle |
myoblasts |
4 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
256000
LEIGH SYNDROME; LS |
G31.8
Other specified degenerative diseases of nervous system (Subacute necrotizing encephalopathy [Leigh] ) |
muscle |
myoblasts |
4 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
255310
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD |
G71.2
Congenital myopathies (Congenital fiber-type disproportion (CFTD) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
607801
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C |
G71.0
Muscular dystrophy (LGMD 1C) |
muscle |
myoblasts |
6 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
159001
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B |
G71.0
Muscular dystrophy (LGMD 1B) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A |
G71.0
Muscular dystrophy (LGMD 2A) |
muscle |
myoblasts |
15 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
253601
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B |
G71.0
Muscular dystrophy (LGMD 2B) |
muscle |
myoblasts |
15 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C |
G71.0
Muscular dystrophy (LGMD 2C) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
607155
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I |
G71.0
Muscular dystrophy (LGMD 2I with mutation in FKRP) |
muscle |
myoblasts |
15 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
608099
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D |
G71.0
Muscular dystrophy (LGMD 2D with mutation in a-SG) |
muscle |
myoblasts |
5 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
150330
LYPODYSTROPHY WITH LAMIN A/C MUTATION |
G71.0
Muscular dystrophy (Lypodystrophy with mutation in Lamin A/C) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
154700
MARFAN SYNDROME; MFS |
Q87.4
Marfan's syndrome |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
604168
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN |
|
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
102770
ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1; MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO, INCLUDED |
G73.6
Myopathy in metabolic diseases (Myoadenylate deaminase deficiency) |
muscle |
myoblasts |
18 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
181350
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 |
G71.0
Muscular dystrophy (Emery-Dreifuss) |
muscle |
myoblasts |
3 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
540000
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS |
G31.8
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) |
muscle |
myoblasts |
4 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
545000
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF |
G31.8
Myoclonus Epilepsy with Ragged-Red-Fibers (MERRF) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
G71.2
Congenital myopathies (multiminicore) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
602668
DYSTROPHIA MYOTONICA 2; DM2 |
G71.1
Myotonic disorders (DM2) |
muscle |
myoblasts |
32 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
310200
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
G71.0
Duchenne Muscular dystrophy |
muscle |
myoblasts |
11 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
255110
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET |
G73.6
Myopathy in metabolic diseases (CPT-II deficiency) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
300376
MUSCULAR DYSTROPHY, BECKER TYPE; BMD |
G71.0
Becker-Kiener Muscular dystrophy |
muscle |
myoblasts |
8 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
310400
MYOTUBULAR MYOPATHY 1; MTM1 |
G71.2
Congenital myopathies (Myotubular myopathy, x-linked) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
609284
NEMALINE MYOPATHY 1; NEM1 |
G71.2
Congenital myopathies (Nemaline, TPM3) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
160900
DYSTROPHIA MYOTONICA 1 |
G71.1
Myotonic disorders (DM1) |
muscle |
myoblasts |
6 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
161800
NEMALINE MYOPATHY 3; NEM3 |
G71.2
Congenital myopathies (Nemaline, Actin) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
G71.2
Congenital myopathies (Nemaline) |
muscle |
myoblasts |
6 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
164300
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD |
G71.0
Muscular dystrophy (Oculopharyngeal, OPMD) |
muscle |
myoblasts |
4 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
|
M33.2
Polymyositis |
muscle |
myoblasts |
40 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
263570
POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD |
|
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
604377
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY |
|
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
253300
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 |
G12.0
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
604320
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS |
G12.1
Spinal muscular atrophy with respiratory distress (SMARD) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
253400
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 |
G12.1
Other inherited spinal muscular atrophy (juvenile form, type III [Kugelberg-Welander]) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
313200
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 |
G12.1
Other spinal muscular atrophies and related syndromes (spinobulbar form, Type Kennedy) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
609560
MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM |
G71.3
Mitochondrial myopathy, not elsewhere classified(mt- DNA DEPLETION SYNDROME |
muscle |
myoblasts |
3 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
251880
MITOCHONDRIAL DNA DEPLETION SYNDROME; HEPATOCEREBRAL FORM |
G71.3
Mitochondrial myopathy (mtDNA depletion syndrome, DGUOK) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
600514
REELIN-DEFICIENCY |
Frontotemporal dementia, ataxia (Reelin-deficiency) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
174763
MITOCHONDRIAL DNA DEPLETION SYNDROME, POLG1 |
G71.3
Mitochondrial myopathy (mtDNA depletion syndrome, POLG1) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
145600
MALIGNANT HYPERTHERMIA |
T88.3
Malignant hyperthermia |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
158810
BETHLEM MYOPATHY |
G71.2
Congenital myopathy (Bethlem myopathy) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
608451
MITOCHONDRIAL DNA DEPLETION SYNDROME, ETHE1 |
G71.3
Mitochondrial myopathy (mtDNA depletion syndrome, ETHE1) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
255700
MYOTONIA CONGENITA, AUTOSOMAL-RECESSIVE |
G71.1
Recessive myotonia congenita (Becker) |
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
609200
MYOFIBRILLAR MYOPATHY, MYOTILIN-RELATED |
G71.2
Myofibrillar Myopathy (Myotilinopathy) |
muscle |
myoblasts |
6 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
601419
MYOFIBRILLAR MYOPATHY, DESMIN-RELATED |
G71.2
Myofibrillar Myopathy (Desminopathy) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
248880
CCFDN, MARINESCO-SJOERGENSEN SYNDROME |
CCFDN, Marinesco-Sjoergensen-Syndrome |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
606002
SPINOCEREBELLAR ATAXIA, AUTOSOMAL-RECESSIVE (SCAR1) |
|
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
231680
ETFDH DEFICIENCY (COENZYME Q10 MYOPATHY) |
Mitochondrial myopathy (Coenzyme Q10 myopathy, ETFDH deficiency) |
muscle |
myoblasts |
2 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
310400
MYOTUBULAR MYOPATHY, X-LINKED; MTMX |
|
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
| |
176270
PRADER-WILLI-SYNDROME |
|
muscle |
myoblasts |
1 |
mtcc@med.uni-muenchen.de |
2008-08-07 |
|
 |
|
 |
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