Publications - Charcot-Marie-Tooth Disease

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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Landoure, G., Zdebik, A.A., Martinez, T.L., Burnett, B.G., Stanescu, H.C., Inada, H., Shi, Y., Taye, A.A., Kong, L., Munns, C.H., Choo, S.S., Phelps, C.B., Houlden, H., Ludlow, C.L., Caterina, M.J., Gaudet, R., Kleta, R., Fischbeck, K.H. and Sumner, C.J. Nature Genetics 42(2): 170-174. [paper]