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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
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
096919/Z/11/ZWellcome Trust