Phenotype #0000238360
| Individual ID |
00314572 |
| Associated disease |
LGMD |
| Phenotype details |
29y-loss ambulation; no calf hypertrophy; 1, ; winging scapulae; no scoliosis; lordosis; serum CK 3900 (U/L); dysferlinopathy; EMG myopathic features |
| Diagnosis/Initial |
limb girdle muscular dystrophy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
LGMD2B |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
19y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-10-12 17:29:43 +02:00 (CEST) |
| Date last edited |
N/A |
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