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J Child Neurol. 2007 Jul;22(7):858-62.

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

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H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University Medical Center, 630 W. 168th Street, New York, NY 10032, USA.


A 14-year-old boy had exercise intolerance, weakness, ataxia, and lactic acidosis. Because his muscle biopsy showed a mosaic pattern of fibers staining intensely with the succinate dehydrogenase reaction but not at all with the cytochrome c oxidase reaction, we sequenced his mitochondrial DNA and found a novel mutation (C14680A) in the gene for tRNAGlu. The mutation was present in accessible tissues from the asymptomatic mother but not from a brother with Asperger syndrome. These data expand the clinical heterogeneity of mutations in this mitochondrial gene.

[Indexed for MEDLINE]

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