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Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study

Ng, YS; Martikainen, MH; Gorman, GS; Blain, A; Bugiardini, E; Bunting, A; Schaefer, AM; ... McFarland, R; + view all (2019) Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study. Annals of Neurology , 86 (2) pp. 310-315. 10.1002/ana.25525. Green open access

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Abstract

Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and seven with Neuropathy Ataxia Retinitis Pigmentosa. The remaining 50 patients presented with variable non-syndromic features including ataxia, neuropathy and learning disability. We confirmed maternal inheritance in 39 families, and demonstrated tissue segregation patterns and phenotypic threshold are variant-dependent. Our findings suggest that MT-ATP6-related mitochondrial disease is best conceptualised as a spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. This article is protected by copyright. All rights reserved.

Type: Article
Title: Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ana.25525
Publisher version: http://doi.org/10.1002/ana.25525
Language: English
Additional information: © 2019 The Authors. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Leigh syndrome, ataxia, heteroplasmy, neuropathy, risk prediction
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10076270
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