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...

詳細記述

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書誌詳細
出版年:Mol Neurodegener
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2014
主題:
Research Article
オンライン･アクセス: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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