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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… Click to show full abstract
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.
Keywords:
leigh syndrome;
syndrome caused;
mutations mtfmt;
mtfmt associated;
caused mutations
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!