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Nat Genet. 2010 Feb;42(2):98-100. doi: 10.1038/ng0210-98.

Channelopathies converge on TRPV4.

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.

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PMID:
20104247
[PubMed - indexed for MEDLINE]
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