We found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleAlterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.AuthorsAuer-Grumbach, Michaela; Olschewski, Andrea; Papic, LeaPublicationNature Genetics, 2010, Vol 42, Issue 2, p160ISSN1061-4036Publication typearticleDOI10.1038/ng.508