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m.5650G>A, MT-TA (mt-tRNA^Ala), Mitochondrial myopathy

tRNA variant m.5650G>A
Gene MT-TA (mt-tRNA^Ala)
Disease Mitochondrial myopathy
Description Causes aminoacylation defect and reduced respiratory chain function.
tRNAs trbR00001069
Publications
  • The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.
    Robert McFarland, Helen Swalwell, Emma L Blakely, Langping He, Emma J Groen, Douglass M Turnbull, Kate M Bushby, Robert W Taylor
    Neuromuscular disorders : NMD
    volume: 18 issue: 1 epub: Sept. 6, 2007 PUBMED ID: 17825557