A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

We report the first missense mutation in the mtDNA gene for subunit II of cytochrome c oxidase (COX). The mutation was identified in a 14-year-old boy with a proximal myopathy and lactic acidosis. Muscle histochemistry and mitochondrial respiratory-chain enzymology demonstrated a marked reduction in...

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Main Authors: Rahman, Shamima, Taanman, Jan-Willem, Cooper, J. Mark, Nelson, Isabelle, Hargreaves, Ian, Meunier, Brigitte, Hanna, Michael G, García, José J., Capaldi, Roderick A., Lake, Brian D., Leonard, James V., Schapira, Anthony H. V.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 1999
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Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288235/
https://ncbi.nlm.nih.gov/pubmed/10486321
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