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McArdle's disease in two generations

Autosomal recessive transmission with manifesting heterozygote

Escola Paulista de Medicina (Drs. Schmidt, Gabbai, Silva, and de Sousa Bulk de Oliveira), Sao Paulo, Brazil; and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related diseases (Drs. Servidei and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY.

A 17-year-old boy had exercise-induced cramps and myoglobinuria. The mother had myalgia and weakness after exercise but the father was asymptomatic. Muscle biopsy was normal in the father but showed glycogen storage and absent or markedly decreased histochemical stain for phosphorylase in mother and son. Autosomal dominant McArdle's disease was considered likely, but biochemical studies showed that muscle phosphorylase activity was 0.6% of normal in the son, 20% in the mother, and 45% in the father, with corresponding decreases of cross-reacting material by immunotitration. These data suggest autosomal recessive transmission. One of the parents was clinically silent and the other was a manifesting heterozygote.

Address correspondence and reprint requests to Dr. DiMauro, 4–420, College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032.

Supported by Center Grants NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke and from the Muscular Dystrophy Association. Dr. Servidei is supported by a fellowship from the Unione Italiana Lotta contro la Distrofia Muscolare (UILDM), Sezione Laziale "Giulia Testore."

Received November 5, 1986. Accepted for publication in final form December 16, 1986.

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