Literature DB >> 11971101

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

Y Nishigaki1, E Bonilla, S Shanske, D A Gaskin, S DiMauro, M Hirano.   

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.

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Year:  2002        PMID： 11971101     DOI： 10.1212/wnl.58.8.1282

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  5 in total

1.  Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

Authors:  O Grafakou; F A Hol; K Otfried Schwab; M H Siers; H ter Laak; F Trijbels; R Ensenauer; C Boelen; J Smeitink
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

2.  Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.

Authors:  Yutaka Nishigaki; Ramon Martí; William C Copeland; Michio Hirano
Journal:  J Clin Invest       Date:  2003-06       Impact factor: 14.808

Review 3.  Statin adverse effects : a review of the literature and evidence for a mitochondrial mechanism.

Authors:  Beatrice A Golomb; Marcella A Evans
Journal:  Am J Cardiovasc Drugs       Date:  2008       Impact factor: 3.571

4.  Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Authors:  Michael Nafisinia; Lisa G Riley; Wendy A Gold; Kaustuv Bhattacharya; Carolyn R Broderick; David R Thorburn; Cas Simons; John Christodoulou
Journal:  PLoS One       Date:  2017-06-08       Impact factor: 3.240

5.  Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA Gly (MT-TG) Variant.

Authors:  Haiyan Yang; Victor Wei Zhang; Liang Ai; Siyi Gan; Liwen Wu
Journal:  Front Neurol       Date:  2022-03-30       Impact factor: 4.003
  5 in total

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