“Cap disease”

Abstract
In a 7-yr-old boy with delayed motor development, a congenital nonprogressive myopathy was diagnosed. Histochemical and ultrastructural examination of a muscle specimen revealed unusual pathologic findings. In 70% of muscle fibers, peripherally located zones lacking in ATPase activity and consisting of abnormally arranged myofibrils were observed. The characteristic position of the peripherally located myofibrils and their abnormal sarcomere pattern seem to point to an error in the fusion and in the synthesis of muscle protein.

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