Article
[Susceptibility gene in multiple system atrophy (MSA)].
Rinsho shinkeigaku = Clinical neurology - 1 Jan 2014
Tsuji Shoji
Abstract excerpt
To elucidate molecular bases of multiple system atrophy (MSA), we first focused on recently identified MSA multiplex families. Though linkage analyses followed by whole genome resequencing, we have identified a causative gene, COQ2, for MSA. We then conducted comprehensive nucleotide sequence analysis of COQ2 of sporadic MSA cases and controls, and found that functionally deleterious COQ2 variants confer a strong...
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