Condition: Mitochondrial Myopathies


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.

rs786200950 in ND2;COX2;TRNA;COX1 gene and Mitochondrial Myopathies PMID 25873012 2015 Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

rs587777600 in RAVER1;FDX2 gene and Mitochondrial Myopathies PMID 24281368 2014 Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

PMID 30010796 2018 A novel complex neurological phenotype due to a homozygous mutation in FDX2.

rs888630930 in ZGLP1;FDX2 gene and Mitochondrial Myopathies PMID 24281368 2014 Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

PMID 30010796 2018 A novel complex neurological phenotype due to a homozygous mutation in FDX2.