Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

(2018) Elżbieta Ciara et al.   JOURNAL OF HUMAN GENETICS

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

(2018) Yi Shiau Ng et al.   EBioMedicine

Mitochondrial methionyl N-formylation affects steady-state levels of oxidative phosphorylation complexes and their organization into supercomplexes

(2018) Tania Arguello et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

(2017) Kalliopi Sofou et al.   JOURNAL OF MEDICAL GENETICS

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency

(2017) Syeda T. Ahmed et al.   Scientific Reports

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

(2016) Mike Gerards et al.   MOLECULAR GENETICS AND METABOLISM

Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease

(2016) Aris Oates et al.   PEDIATRIC TRANSPLANTATION

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A multicenter study on Leigh syndrome: disease course and predictors of survival

(2014) Kalliopi Sofou et al.   Orphanet Journal of Rare Diseases

Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome

(2013) Mike Gerards et al.   BRAIN

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

(2012) R.J.T. Rodenburg et al.   MITOCHONDRION

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

(2011) Elena J. Tucker et al.   Cell Metabolism