Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).
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.
Nishigaki
Y
Y
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Bonilla
E
E
Shanske
S
S
Gaskin
D A
DA
DiMauro
S
S
Hirano
M
M
D000328:Adult; D015139:Blotting, Southern; D003402:Creatine Kinase / Q000097:blood* / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D004579:Electron Transport / Q000235:genetics; D015444:Exercise / Q000502:physiology*; D005260:Female; D006801:Humans; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000503:physiopathology*; D018763:Muscle Fatigue / Q000235:genetics* / Q000502:physiology*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009412:Nerve Fibers / Q000201:enzymology; D012353:RNA, Transfer, Gly / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D004272:DNA, Mitochondrial; D012353:RNA, Transfer, Gly; D003402:Creatine Kinase