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Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

Lookup NU author(s): Dr Diana Lehmann, Dr Steven Hardy, Dr Helen Tuppen, Karen Baty, Professor Robert Taylor



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HAL, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2015

Volume: 23

Issue: 12

Pages: 1735-1738

Print publication date: 01/12/2015

Online publication date: 15/04/2015

Acceptance date: 12/03/2015

Date deposited: 30/06/2015

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/ejhg.2015.73

PubMed id: 25873012


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Funder referenceFunder name
096919/Z/11/ZWellcome Trust
German Ministry of Education and Research
Lily Foundation
UK NHS Specialist Commissioners funds the 'Rare Mitochondrial Disorders of Adults and Children' Diagnostic Service in Newcastle upon Tyne
096919Z/11/ZWellcome Trust
G0601943Medical Research Council (UK) Centre for Translational Muscle Disease Research