Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
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.
Pancrudo
Jacklyn
J
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.
Shanske
Sara
S
Bonilla
Eduardo
E
Daras
Mariza
M
Akman
Hasan O
HO
Krishna
Sindu
S
Malkin
Elfrida
E
DiMauro
Salvatore
S
D000293:Adolescent; D030401:Cytochrome-c Oxidase Deficiency / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012352:RNA, Transfer, Glu / Q000235:genetics* / Q000378:metabolism
D004272:DNA, Mitochondrial; D012352:RNA, Transfer, Glu; D003576:Electron Transport Complex IV