“Cap disease”
New congenital myopathy
Abstract
In a 7-year-old boy with delayed motor development, a congenital non progressive 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 as well as in the synthesis of muscle protein.
- © 1981 by the American Academy of Neurology
