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Neurology 2002;58:1282-1285
© 2002 American Academy of Neurology
Brief Communications

Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly

Y. Nishigaki, MD PhD, E. Bonilla, MD, S. Shanske, PhD, D. A. Gaskin, MD, S. DiMauro, MD and M. Hirano, MD

From the Department of Neurology (Drs. Nishigaki, Bonilla, Shanske, DiMauro, and Hirano), Columbia University College of Physicians and Surgeons, New York, NY; and Department of Pathology (Dr. Gaskin), University of California–San Francisco.

Address correspondence and reprint requests to Dr. Michio Hirano, Columbia University College of Physicians and Surgeons, 630 W. 168 St., P&S 4-443, New York, NY 10032; e-mail: mh29{at}columbia.edu

A 42-year-old woman presented with myopathy and without a family history of neuromuscular disorder. Muscle biopsy showed ragged red fibers and reduced activities of mitochondrial respiratory chain enzyme complexes I, III, and IV. Analysis of mitochondrial DNA revealed a heteroplasmic T10010C mutation in the transfer RNA glycine gene.




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