The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant-Reference-Cited by-同舟云学术

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The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant

Published:2020-10 Issue: Volume:417 Page:116950
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Alston Charlotte L.,Blakely Emma L.,McFarland Robert,Taylor Robert W.

Funder

Wellcome Centre for Mitochondrial Research

Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease

Mitochondrial Disease Patient Cohort

Lily Foundation

UK NIHR Biomedical Research Centre for Ageing and Age-related disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust

MRC/EPSRC Molecular Pathology Node

UK National Health Service Highly Specialised Service for Rare Mitochondrial Disorders

National Institute for Health Research

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference6 articles.

1. The genetics and pathology of mitochondrial disease;Alston;J. Pathol.,2017

2. Primary hypoparathyroidism and multiple neuraxial involvement in mitochondrial disorder due to the variant m.15043G>A in MT-CYB;Ghosh;J. Neurol. Sci.,2020

3. Mitochondrial diseases;Gorman;Nat Rev Dis Primers.,2016

4. mtDNA variation and analysis using Mitomap and Mitomaster;Lott;Curr. Protoc. Bioinformatics,2013

5. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med.,2015

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Effective treatment of choreaballism due to an MT‐CYB variant with haloperidol, tetrabenazine, and antioxidants;Clinical Case Reports;2023-06

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