Lookup NU author(s): Dr Albert Lim,
Dr Langping He,
Professor Bobby McFarland,
Professor Robert Taylor
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2019 The Authors Mitochondrial DNA variants in the MT-TM (mt-tRNA Met )gene are rare, typically associated with myopathic phenotypes. We identified a novel MT-TM variant resulting in prolonged seizures with childhood-onset myopathy, retinopathy, short stature and elevated CSF lactate associated with bilateral basal ganglia changes on neuroimaging. Muscle biopsy confirmed multiple respiratory chain deficiencies and focal cytochrome c oxidase (COX)histochemical abnormalities. Next-generation sequencing of the mitochondrial genome revealed a novel m.4412G>A variant at high heteroplasmy levels in muscle that fulfils all accepted criteria for pathogenicity including segregation within single muscle fibres, thus broadening the genotypic and phenotypic landscape of mitochondrial tRNA-related disease.
Author(s): Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW
Publication type: Article
Publication status: Published
Print publication date: 01/07/2019
Online publication date: 22/04/2019
Acceptance date: 19/04/2019
ISSN (print): 1567-7249
ISSN (electronic): 1872-8278
Publisher: Elsevier BV
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