 |
1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9
|
|
|
|
|   |
|
|
|
|
|
|
|
  |
|   |
310200 Duchenne dystrophy, DMD |
G71.0 Muscular dystrophy |
98896 Muscular dystrophy, Duchenne type |
Musculoskeletal System |
myoblasts |
38 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
300376 Becker dystrophy, BMD |
G71.0 Muscular dystrophy |
98895 Muscular dystrophy, Becker type |
Musculoskeletal System |
myoblasts |
34 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
310200 DMD/BMD carrier |
G71.0 Muscular dystrophy |
262 Duchenne and Becker muscular dystrophy |
Musculoskeletal System |
myoblasts |
16 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
253600 LGMD2A, calpainopathy |
G71.0 Muscular dystrophy |
267 Muscular dystrophy, limb-girdle type 2A |
Musculoskeletal System |
myoblasts |
4 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
253601 LGMD2B, dysferlinopathy |
G71.0 Muscular dystrophy |
268 muscular dystrophy, limb-girdle, type 2B |
Musculoskeletal System |
myoblasts |
8 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
253700 LGMD2C, gamma-sarcoglycanopathy |
G71.0 Muscular dystrophy |
353 Muscular dystrophy, limb-girdle, type 2C |
Musculoskeletal myoblasts |
|
2 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
600899 LGMD2D, alpha-sarcoglycanopathy |
G71.0 Muscular dystrophy |
62 Muscular dystrophy, limb-girdle, type 2D |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
607155 LGMD2I, FKRP |
G71.0 Muscular dystrophy |
34515 Muscular dystrophy, limb-girdle, type 2I |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
607801 LGMD1C, caveolinopathy |
G71.0 Muscular dystrophy |
265 muscular dystrophy, limb-girdle, type 1C |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
310300 EDMD X-linked |
G71.0 Muscular dystrophy |
261 Emery-Dreifuss muscular dystrophy, X linked
(il n° orpha mi distingue i due geni vedi sotto pertanto non sarebbe necessario mettere X linked) |
Integumentary System |
fibroblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
607855 Merosinopathy, LAMA2 |
G71.2 Congenital myopathies |
258 muscular dystrophy,, congenital merosin deficient, 1A |
Musculoskeletal System |
myoblasts |
4 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
606612 Congenital Dystrophy. FKRP |
G71.2 Congenital myopathies |
13486 Congenital muscular dystrophy due to glycosyltransferase anomaly |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
607423 Congenital Dystrophy. POMT1 |
G71.2 Congenital myopathies |
13486 Congenital muscular dystrophy due to glycosyltransferase anomaly |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
606822 Congenital Dystrophy. POMGnT1 |
G71.2 Congenital myopathies |
13486 Congenital muscular dystrophy due to glycosyltransferase anomaly |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
607440 Congenital Dystrophy. Fukutin |
G71.2 Congenital myopathies |
13486 Congenital muscular dystrophy due to glycosyltransferase anomaly |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
158900 Facio-scapulo-humeral, FSHD1 |
G71.0 Muscular dystrophy |
269 Facioscapulohumeral muscular dystrophy 1A |
Musculoskeletal |
myoblasts |
13 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
160900 Myotonic dystrophy, Steinert, DM1 |
G71.1 Myotonic disorders |
273 Myotonic dystrophy type 1 |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
602668 Myotonic dystrophy type 2, PROMM, DM2 |
G71.1 Myotonic disorders |
606 Myotonic dystrophy type 2 |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
Thomsen/Becker disease CLCN1 channel |
G71.1 Myotonic disorders |
75 Thomsen and Becker disease |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
170400 Hypokaliemic periodic paralysis |
G72.3 Periodic paralysis |
211 Hypokalemic periodic paralysis |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
Scapulo-peroneal dystrophy |
G71.0 Muscular dystrophy |
11628 Scapuloperoneal amyotrophy |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
164300 Oculo-pharyngeal dystrophy |
G71.0 Muscular dystrophy |
664 Oculopharyngeal muscular dystrophy |
Musculoskeletal System |
myoblasts |
3 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
Myofibrillar myopathy |
G71.0 Muscular dystrophy |
68 Myofibrillary myopathy |
Musculoskeletal System |
myoblasts |
2 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
605820 Distal myopahy, Nonaka type |
G71.0 Muscular dystrophy |
8729 Distal myopathy, Nonaka type |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
|   |
Nemaline myopathy |
G71.2 Congenital myopathies |
66 Nemaline myopathy |
Musculoskeletal System |
myoblasts |
1 |
mmora@istituto-besta.it |
2011-11-15 |
  |
 |
|
 |