Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hannah HayhurstIrenaeus F M de CooDorota Piekutowska-AbramczukCharlotte L AlstonSunil SharmaKyle ThompsonRocio RiusLangping HeSila HoptonRafal PloskiElżbieta CiaraNicole J LakeAlison G ComptonMartin B DelatyckiAad VerripsPenelope E BonnenSimon A JonesAndrew A MorrisDavid ShakespeareJohn ChrisodoulouDorota Wesol-KucharskaDariusz RokickiHubert J M SmeetsEwa PronickaDavid R ThorburnGrainne S GormanRobert McFarlandRobert W TaylorYi Shiau NgPublished in: Annals of clinical and translational neurology (2019)
Patients that harbour pathogenic variants in MTFMT have a milder clinical phenotype and disease progression compared to LS caused by other nuclear defects. Fibroblasts may preclude the need for muscle biopsy, to prove causality of any novel variant.