RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement-Reference-Cited by-同舟云学术

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Published:2015-01-21 Issue:10 Volume:23 Page:1301-1307
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Janer Alexandre,van Karnebeek Clara DM,Sasarman Florin,Antonicka Hana,Al Ghamdi Malak,Shyr Casper,Dunbar Mary,Stockler-Ispiroglu Sylvia,Ross Colin J,Vallance Hilary,Dionne Janis,Wasserman Wyeth W,Shoubridge Eric A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014293.pdf

Reference16 articles.

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3. Weraarpachai W, Antonicka H, Sasarman F et al: Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet 2009; 41: 833–837.

4. Janer A, Antonicka H, Lalonde E et al: An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Am J Hum Genet 2012; 91: 737–743.

5. Antonicka H, Ostergaard E, Sasarman F et al: Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet 2010; 87: 115–122.

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