Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
Deng HX; Klein CJ; Yan J; Shi Y; Wu Y; Fecto F; Yau HJ; Yang Y; Zhai H; Siddique N; Hedley-Whyte ET; Delong R; Martina M; Dyck PJ; Siddique T; Nature Genetics, 2010, vol. 42, issue 2, p 165, ISSN 15461718. ISBN 15461718.

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