Condition: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15


rs201431517 in MTFMT gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 PMID 21907147 2011 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

PMID 25288793 2014 Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.

PMID 24461907 2014 Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

PMID 24123792 2013 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 23499752 2013 Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.

PMID 22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.