Leigh Syndrome with Nephropathy and CoQ(10) Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

Coenzyme Q(10) (CoQ(10)) is a vital lipophilic molecule that transfers electrons from mitochondrial respiratory chain complexes I and II to complex III. Deficiency of CoQ(10) has been associated with diverse clinical phenotypes, but, in most patients, the molecular cause is unknown. The first defect...

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Main Authors: López, Luis Carlos , Schuelke, Markus , Quinzii, Catarina M. , Kanki, Tomotake , Rodenburg, Richard J. T. , Naini, Ali , DiMauro, Salvatore , Hirano, Michio 
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2006
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698707/
https://ncbi.nlm.nih.gov/pubmed/17186472
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