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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Détails bibliographiques
Publié dans:Mol Neurodegener
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Research Article
Accès en ligne: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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