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 mutatio...

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Veröffentlicht in:	Neurology 2002-04, Vol.58 (8), p.1282-1285
Hauptverfasser:	Nishigaki, Y, Bonilla, E, Shanske, S, Gaskin, D A, DiMauro, S, Hirano, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Blotting, Southern Creatine Kinase - blood Creatine Kinase - genetics DNA, Mitochondrial - genetics Electron Transport - genetics Exercise - physiology Female Humans Mitochondrial Myopathies - genetics Mitochondrial Myopathies - physiopathology Muscle Fatigue - genetics Muscle Fatigue - physiology Muscle, Skeletal - pathology Mutation - genetics Nerve Fibers - enzymology Reverse Transcriptase Polymerase Chain Reaction RNA, Transfer, Gly - genetics
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Beschreibung
Zusammenfassung:	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.
ISSN:	0028-3878
DOI:	10.1212/WNL.58.8.1282