Article
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Brain : a journal of neurology - 1 Jun 2010
Zimoń Magdalena, Baets Jonathan, Auer-Grumbach Michaela, Berciano José, Garcia Antonio, Lopez-Laso Eduardo, Merlini Luciano, Hilton-Jones David, McEntagart Meriel, Crosby Andrew H, Barisic Nina, Boltshauser Eugen, Shaw Christopher E, Landouré Guida, Ludlow Christy L, Gaudet Rachelle, Houlden Henry, Reilly Mary M, Fischbeck Kenneth H, Sumner Charlotte J, Timmerman Vincent, Jordanova Albena, Jonghe Peter De
Abstract excerpt
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 and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy....
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