通道病集中在 TRPV4 上。
Channelopathies converge on TRPV4.
出版信息
Nat Genet. 2010 Feb;42(2):98-100. doi: 10.1038/ng0210-98.
PMID:20104247
Abstract
Scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are inherited neurodegenerative diseases characterized by sensory defects and muscle weakness. Three new studies demonstrate that they are allelic disorders caused by mutations in the vanilloid transient receptor potential cation-channel gene TRPV4.
摘要
肩腓型脊肌萎缩症和 2C 型腓骨肌萎缩症是两种遗传性神经退行性疾病，其特征为感觉缺陷和肌肉无力。三项新研究表明，它们是由香草素瞬时受体电位阳离子通道基因 TRPV4 突变引起的等位基因疾病。
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