Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease.
Howard C et al.
Jimd Reports, 2023
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H et al.
Annals of Clinical and Translational Neurology, 2019
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Hemelsoet DM et al.
Neurology. Genetics, 2018
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
La Piana R et al.
Neurogenetics, 2017
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB et al.
Molecular Genetics and Metabolism, 2014
Late onset Leigh syndrome mimicking central nervous system vasculitis.
Prasun P et al.
Molecular Genetics and Metabolism Reports, 2014
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