Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ.
Landouré G, et al. Among authors: shi y.
Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27.
Nat Genet. 2010.
PMID: 20037586
Free PMC article.