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Analysis of COQ2 gene in multiple system atrophy

BACKGROUND: Loss of function COQ2 mutations results in primary CoQ10 deficiency. Recently, recessive mutations of the COQ2 gene have been identified in two unrelated Japanese families with multiple system atrophy (MSA). It has also been proposed that specific heterozygous variants in the COQ2 gene m...

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Detalles Bibliográficos
Publicado en:Mol Neurodegener
Main Authors: Ogaki, Kotaro, Fujioka, Shinsuke, Heckman, Michael G, Rayaprolu, Sruti, Soto-Ortolaza, Alexandra I, Labbé, Catherine, Walton, Ronald L, Lorenzo-Betancor, Oswaldo, Wang, Xue, Asmann, Yan, Rademakers, Rosa, Graff-Radford, Neill, Uitti, Ryan, Cheshire, William P, Wszolek, Zbigniew K, Dickson, Dennis W, Ross, Owen A
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4233093/
https://ncbi.nlm.nih.gov/pubmed/25373618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1326-9-44
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