Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Michaela Auer-Grumbach, Andrea Olschewski, Lea Papić, Hannie Kremer, Meriel E McEntagart, Sabine Uhrig, Carina Fischer, Eleonore Fröhlich, Zoltán Bálint, Bi Tang, Heimo Strohmaier, Hanns Lochmüller, Beate Schlotter-Weigel, Jan Senderek, Angelika Krebs, Katherine J Dick, Richard Petty, Cheryl Longman, Neil E Anderson, George W Padberg, Helenius J Schelhaas, Conny M A van Ravenswaaij-Arts, Thomas R Pieber, Andrew H Crosby, Christian Guelly
  • Nature Genetics, December 2009, Springer Science + Business Media
  • DOI: 10.1038/ng.508

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