Condition: Combined Oxidative Phosphorylation Deficiency 3
rs121909485
in
TSFM
gene and
Combined Oxidative Phosphorylation Deficiency 3
PMID 17033963
2006 Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
PMID 27677415
2016 Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
PMID 22499341
2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.