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Published in last 50 years
The value of dystrophin analysis in the early diagnosis of two patients with childhood autosomal recessive muscular dystrophy is reported from the Department of Pediatrics, Sapporo Medical College, Sapporo, Japan.
We report 2 patients with childhood autosomal recessive muscular dystrophy. Both patients had slight muscle weakness without enlargement of the calf muscles or involvement of the facial muscles. Their clinical courses are static. Muscle histology revealed characteristic features of muscular dystrophy. Dystrophin was identifiable in the sarcolemma of both patients by immunocytochemical staining with an antidystrophin antibody. At an early age, immunocytochemical analysis with antidystrophin antibody was useful in distinguishing between childhood autosomal recessive and Duchenne muscular dystrophies.