Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C.
Auer-Grumbach M, et al. Among authors: olschewski a.
Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27.
Nat Genet. 2010.
PMID: 20037588
Free PMC article.