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May 1981

Muscle Adenylate Deaminase Deficiency: Report of Six New Cases

Author Affiliations

From the Jerry Lewis Neuromuscular Research Center and the Department of Medicine, UCLA School of Medicine, Los Angeles.

Arch Neurol. 1981;38(5):279-281. doi:10.1001/archneur.1981.00510050045005

• We describe six adult patients (five men and one woman) out of 364 whose muscle biopsy specimens disclosed muscle adenylate deaminase deficiency. Two men had an associated dermatomyositis and another man had an associated progressive systemic sclerosis. Although the patients were different clinically, all complained of muscular weakness or poor exercise tolerance. The occurrence of muscle adenylate deaminase deficiency in both sexes suggests a possible autosomal mode of inheritance.

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