Associated Papers
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H et al.
Annals of Clinical and Translational Neurology, 2019
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB et al.
Molecular Genetics and Metabolism, 2014
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Neeve VC et al.
Mitochondrion, 2013
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Tucker EJ et al.
Cell Metabolism, 2011
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