Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct neuromuscular phenotypes: hereditary motor an...

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Bibliographic Details
Main Authors:	Zimoń, M, Baets, J, Auer-Grumbach, M, Berciano, J, Garcia, A, Lopez-Laso, E, Merlini, L, Hilton-Jones, D, McEntagart, M, Crosby, A, Barisic, N, Boltshauser, E, Shaw, C, Landouré, G, Ludlow, C, Gaudet, R, Houlden, H, Reilly, M, Fischbeck, K, Sumner, C, Timmerman, V, Jordanova, A, Jonghe, P
Format:	Journal article
Language:	English
Published:	2010

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

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