Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy-Reference-Cited by-同舟云学术

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Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy

Published:2005-12 Issue:12 Volume:15 Page:851-857
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Horváth R.,Schoser B.G.H.,Müller-Höcker J.,Völpel M.,Jaksch M.,Lochmüller H.

Publisher

Elsevier BV

Subject

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

Reference27 articles.

1. Cytochrome c oxidase deficiency;Shoubridge;Am J Med Genet,2001

2. Mitochondrial respiratory-chain diseases;DiMauro;N Engl J Med,2003

3. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria;Keightley;Nat Genet,1996

4. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA;Hanna;Am J Hum Genet,1998

5. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy;Rahman;Am J Hum Genet,1999

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