Exercise-induced muscle “burning,” fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly
Y Nishigaki, E Bonilla, S Shanske, DA Gaskin… - Neurology, 2002 - AAN Enterprises
Y Nishigaki, E Bonilla, S Shanske, DA Gaskin, S DiMauro, M Hirano
Neurology, 2002•AAN EnterprisesA 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.
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.
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.
American Academy of Neurology