Condition: Impaired exercise tolerance
rs201431517
in
MTFMT
gene and
Impaired exercise tolerance
PMID 24461907
2014 Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
PMID 21907147
2011 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.