There is variabiltiy in muscle fiber size, Small fibers are rounded. Connective tissue is increased. A A 1 year old boy presents with motor delay since birth. Serum CK is elevated at 950. A 20 year old male noted difficulty climbing stairs.
Examination shows symmetric proximal weakness.
Serum CK is 500. EMG is myopathic. A 20 year old male is admitted to the cardiac service for repeated syncope. His mother died suddenly several years ago. Exam shows scapular winging, symmetric weakness in the biceps and triceps, and elbow contractures.