Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy-Reference-Cited by-同舟云学术

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Published:2012-02-29 Issue:8 Volume:20 Page:897-904
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tuppen Helen AL,Naess Karin,Kennaway Nancy G,Al-Dosary Mazhor,Lesko Nicole,Yarham John W,Bruhn Helene,Wibom Rolf,Nennesmo Inger,Weleber Richard G,Blakely Emma L,Taylor Robert W,McFarland Robert

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201244.pdf

Reference36 articles.

1. Schaefer AM, McFarland R, Blakely EL et al: Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008; 63: 35–39.

2. Anitori R, Manning K, Quan F et al: Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. Mol Genet Metab 2005; 84: 176–188.

3. Scaglia F, Wong LJ : Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve 2008; 37: 150–171.

4. McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM : Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’ is not good enough. Trends Genet 2004; 20: 591–596.

5. Yarham JW, Al-Dosary M, Blakely EL et al: A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 2011; 32: 1319–1325.

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