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.