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Myotonic dystrophy like mitochondrial myopathy with tRNAAla mutation
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In the past decade there have been reports of over 100 mitochondrial (mt) DNA mutations associated with neuromuscular disease. These have included large scale mtDNA rearrangements, common point mutations in mt tRNA genes, and mutations affecting structural genes of mtDNA encoded respiratory chain subunits. The tRNA mutation of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is located in the tRNALeu (UUR) gene and …