|
Summary of the clinical data of three patients |
|
| Physical and clinical examination |
Clinical symptoms or indications |
|
|
|
| Physical development |
Normal |
| Psychological development |
Normal |
| Age onset |
Two sisters in the second decade, the oldest in the third decade |
| First symptoms |
Difficulty in climbing stairs and standing up from chair |
| Pattern of muscle involvement |
Lower and upper limb-girdle muscle |
| Clinical course |
Slow |
| Pseudohypertrophy of calf |
Transient calf hypertrophy at early stage |
| cardiomyopathy |
No |
| Serum creatine kinase (SCK) |
Very high, approximately 10 times than normal |
| EMG |
Myopathic damage |
| Muscle biopsy |
Typical muscle dystrophic change |
Zhang et al. Journal of Translational Medicine 2006 4:53 doi:10.1186/1479-5876-4-53 |
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