Article
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nature genetics - 1 Feb 2010
Auer-Grumbach Michaela, Olschewski Andrea, Papić Lea, Kremer Hannie, McEntagart Meriel E, Uhrig Sabine, Fischer Carina, Fröhlich Eleonore, Bálint Zoltán, Tang Bi, Strohmaier Heimo, Lochmüller Hanns, Schlotter-Weigel Beate, Senderek Jan, Krebs Angelika, Dick Katherine J, Petty Richard, Longman Cheryl, Anderson Neil E, Padberg George W, Schelhaas Helenius J, van Ravenswaaij-Arts Conny M A, Pieber Thomas R, Crosby Andrew H, Guelly Christian
Abstract excerpt
Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN) are clinically and genetically heterogeneous disorders of the peripheral nervous system. Here we report that mutations in the TRPV4 gene cause congenital distal SMA, s...
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