Exercise-induced muscle 'burning,' fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly

Autor:	Eduardo Bonilla, S. Shanske, S. DiMauro, D. A. Gaskin, Michio Hirano, Yutaka Nishigaki
Rok vydání:	2002
Předmět:	Adult Mitochondrial DNA Biology medicine.disease_cause DNA Mitochondrial Electron Transport Nerve Fibers Mitochondrial myopathy medicine Humans Muscle Skeletal Myopathy Creatine Kinase Exercise Genetics Mutation Muscle biopsy medicine.diagnostic_test Muscle fatigue Reverse Transcriptase Polymerase Chain Reaction Mitochondrial Myopathies RNA Transfer Gly medicine.disease Molecular biology Heteroplasmy Blotting Southern Mitochondrial respiratory chain Muscle Fatigue Female Neurology (clinical) medicine.symptom
Zdroj:	Neurology. 58:1282-1285
ISSN:	1526-632X 0028-3878
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5222a522a5de51ac5d451c891ff56f4 https://doi.org/10.1212/wnl.58.8.1282 Zobrazit plný text záznamu