Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).

Abstract

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.

• Authors: Y Nishigaki, E Bonilla, S Shanske, D A Gaskin, S DiMauro, M Hirano
• Journal: Neurology (Neurology) Vol. 58 Issue 8 Pg. 1282-5 (Apr 23 2002) ISSN: 0028-3878 [Print] United States
• PMID: 11971101 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Gly
• Creatine Kinase

Topics

• Adult
• Blotting, Southern
• Creatine Kinase (blood, genetics)
• DNA, Mitochondrial (genetics)
• Electron Transport (genetics)
• Exercise (physiology)
• Female
• Humans
• Mitochondrial Myopathies (genetics, physiopathology)
• Muscle Fatigue (genetics, physiology)
• Muscle, Skeletal (pathology)
• Mutation (genetics)
• Nerve Fibers (enzymology)
• RNA, Transfer, Gly (genetics)
• Reverse Transcriptase Polymerase Chain Reaction