CMT 2C: Channelopathies converge on TRPV4

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Nat Genet. 2010 Feb;42(2):98-100.

Channelopathies converge on TRPV4.

Nilius B, Owsianik G.

Bernd Nilius and Grzegorz Owsianik are at the Department of Molecular Cell

Biology, Katholieke Universiteit Leuven, Leuven, Belgium.

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.