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