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.