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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4233093/
https://www.ncbi.nlm.nih.gov/pubmed/25373618
http://dx.doi.org/10.1186/1750-1326-9-44

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