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³¹P NMR studies in Duchenne muscular dystrophy

Age-related metabolic changes

Departments of Neurology (Drs. Younkin, Berman, and Sladky, Ms. Chee, and Dr. Bank) and Biochemistry and Biophysics (Dr. Chance), Univer sity of Pennsylvania School of Medicine, and the Division of Neurology (Drs. Younkin, Berman, Sladky, and Ms. Chee), The Children's Hospital of Phila delphia, Philadelphia, PA.

To evaluate possible progressive metabolic changes in Duchenne muscular dystrophy, we used ³¹P nuclear magnetic resonance spectroscopy to measure high-energy phosphate compounds and phosphorylated diesters (PDE) in resting gastrocnemius muscle of 14 Duchenne patients and 10 normal boys. The patients had higher inorganic phosphate (Pi), intracellular pH, and PDE; and lower phosphocreatine (PCr) and PCr/Pi ratio; ATP was not significantly different. The patients showed significant age-related decreases in PCr and PCr/Pi, and increases in Pi and PDE, but ATP did not change. In normal boys, ATP increased with age, but PCr and Pi did not. These studies imply progressive metabolic deterioration in Duchenne dystrophy.

Address correspondence and reprint requests to Dr. Younkin, Division of Neu rology, Children's Hospital of Philadelphia, 34th Street & Civic Center Boule vard, Philadelphia, PA 19104.

Supported by the Muscular Dystrophy Association Clinic at The Children's Hospital of Philadelphia. Dr. Younkin is the recipient of Teacher-Investigator Award NS 00774 from the National Institute of Neurological and Commu nicative Disorders and Stroke.

Presented in part at the Fourteenth National Meeting of the Child Neurology Society, Memphis, TN, October 1985.

Received December 31, 1985. Accepted for publication April 10, 1986.

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