Gene: COX1

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Gene: ND2

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Gene: COX2

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Gene: TRNA

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rs121434458 in COX1;ND2;COX2;TRNA gene and MELAS Syndrome PMID 19718780 2009 Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

PMID 16476954 2006 Pure myopathy associated with a novel mitochondrial tRNA gene mutation.

rs786200951 in COX1;ND2;COX2;TRNA gene and Mitochondrial Myopathies PMID 25873012 2015 Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.