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NEUROLOGY 1987;37:1065
© 1987 American Academy of Neurology

Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy

Z. H. Hart, MD, S. Servidei, MD, P. L. Peterson, MD, C-H. Chang, MD and S. DiMauro, MD

Children's Hospital of Michigan (Dn. Hart and Chang), Detroit Receiving Hospital (Dr. Peterson), Detroit, MI; and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia-Presbyterian Medical Center (Drs. Servidei and DiMauro), New York, NY.

Two brothers had nonobstructive hypertrophic cardiomyopathy, mental retardation, and vacuolar myopathy, and their mother died of cardiopathy at age 31. Seven families with this syndrome have been described; heredity appears to be X-linked dominant or autosomal dominant, with different expressivity in males and females. The biochemical cause of this lysosomal storage disease is unknown.

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

Dr. Sewidei was the recipient of a postdoctoral fellowship from the Unione Italiana Lotta alla Distrofia Muscolare (UILDM), sezione Laziale "Giulia Testore."

Supported by Center Grants NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke and from the Muscular Dystrophy Association.

Received August 13, 1986. Accepted for publication in final form September 25, 1986.




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