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Article

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

Mitochondrion - 1 Nov 2013

Neeve Vivienne C M, Pyle Angela, Boczonadi Veronika, Gomez-Duran Aurora, Griffin Helen, Santibanez-Koref Mauro, Gaiser Ulrike, Bauer Peter, Tzschach Andreas, Chinnery Patrick F, Horvath Rita

Abstract excerpt

Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain deficiency. The mutations lead to undetectable levels of the MTFMT protein. Blu...

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Identifiers

PMID: 23499752
DOI: 10.1016/j.mito.2013.03.002
PMCID: PMC4046648

Genes

MTFMT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23499752-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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