Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy-Reference-Cited by-同舟云学术

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

Published:2015-04-15 Issue:12 Volume:23 Page:1735-1738
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lehmann Diana,Schubert Kathrin,Joshi Pushpa R,Hardy Steven A,Tuppen Helen A L,Baty Karen,Blakely Emma L,Bamberg Christian,Zierz Stephan,Deschauer Marcus,Taylor Robert W

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201573.pdf

Reference17 articles.

1. Taylor RW, Turnbull DM : Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005; 6: 389–402.

2. Blakely EL, Yarham JW, Alston CL et al: Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat 2013; 34: 1260–1268.

3. Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW : Mitochondrial tRNA mutations and disease. Wiley Interdiscip Rev RNA 2010; 1: 304–324.

4. DiMauro S, Moraes CT : Mitochondrial encephalomyopathies. Arch Neurol 1993; 50: 1197–1208.

5. Wong LJ : Diagnostic challenges of mitochondrial DNA disorders. Mitochondrion 2007; 7: 45–52.

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