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Adenyl cyclase abnormality in Duchenne muscular dystrophy

Muscle cells in culture

From the departments of Neurology and Pathology, College of Physicians and Surgeons, Columbia University, and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center.

Cultured muscle cells from patients with Duchenne muscular dystrophy differed from cells of normal individuals and of patients with other muscle diseases. In Duchenne cells, basal activity of adenyl cyclase of myotubes was higher and was not stimulated significantly by epinephrine or isoproterenol, as it was in fused control cells, and the response to fluoride was less. The genetic defect in this disease may be an abnormality of the surface membrane of muscle.

Dr. Rowland's address is Neurological Institute, 710 West 168th Street, New York, NY 10032.

Supported by Clinical Center grants from NINCDS (11766) and the Muscular Dystrophy Association, Inc.

Received for publication February 4, 1976.