%0 Journal Article
%T Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
%A Aad Verrips
%A Alison G. Compton
%A Andrew A. Morris
%A Charlotte L. Alston
%A Dariusz Rokicki
%A David R. Thorburn
%A David Shakespeare
%A Dorota Piekutowska©\Abramczuk
%A Dorota Wesol©\Kucharska
%A Elzbieta Ciara
%A Ewa Pronicka
%A Grainne S. Gorman
%A Hannah Hayhurst
%A Hubert J. M. Smeets
%A Irenaeus F. M. de Coo
%A John Christodoulou
%A Kyle Thompson
%A Langping He
%A Martin B. Delatycki
%A Nicole J. Lake
%A Penelope E. Bonnen
%A Rafal Ploski
%A Robert McFarland
%A Robert W. Taylor
%A Rocio Rius
%A Sila Hopton
%A Simon A. Jones
%A Sunil Sharma
%J Archive of "Annals of Clinical and Translational Neurology".
%D 2019
%R 10.1002/acn3.725
%X Mitochondrial methionyl©\tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We sought to elucidate the spectrum of clinical, neuroradiological and molecular genetic findings of patients with bi©\allelic pathogenic variants in MTFMT
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414492/