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NEUROLOGY 1987;37:316
© 1987 American Academy of Neurology

Myophosphorylase deficiency

The course of an unusual congenital myopathy J. M. Abarbanel, MD, R. Potashnik, PhD, S. Frisher, MD, S. W. Moses, MD, A. Osimani, MD and Y. Herishanu, MD

Departments of Neurology (Drs. Abarbanel, Frisher, Osimani, and Herishanu) and Pediatrics (Drs. Potashnik and Moses), Soroka University Hospital and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

A 59-year-old man had proximal weakness and wasting that started in early childhood. EMG was "myopathic," serum CK activity was increased, and muscle biopsy showed accumulations of glycogen. Biochemical studies revealed elevated glycogen concentration and absence of myophosphorylase activity. This unusual presentation of a long-standing, painless, and quite static weakness due to myophosphorylase deficiency represents another example of clinical heterogeneity.

Address correspondence and reprint requests to Dr. Abarbanel, Department of Neurology, Soroka Medical Center, PO Box 151, Beer-Sheva 84101, Israel.

Received February 14, 1986. Accepted for publication May 9, 1986.