A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy-Reference-Cited by-同舟云学术

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Published:2010-02 Issue:2 Volume:20 Page:131-135
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Alston Charlotte L.,Morak Monika,Reid Christopher,Hargreaves Iain P.,Pope Simon A.S.,Land John M.,Heales Simon J.,Horvath Rita,Mundy Helen,Taylor Robert W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference23 articles.

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3. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease;Sugiana;Am J Hum Genet,2008

4. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families;Kirby;Ann Neurol,2000

5. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh’s disease;Kirby;Ann Neurol,2003

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