Article
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Nature genetics - 1 Feb 2010
Landouré Guida, Zdebik Anselm A, Martinez Tara L, Burnett Barrington G, Stanescu Horia C, Inada Hitoshi, Shi Yijun, Taye Addis A, Kong Lingling, Munns Clare H, Choo Shelly S, Phelps Christopher B, Paudel Reema, Houlden Henry, Ludlow Christy L, Caterina Michael J, Gaudet Rachelle, Kleta Robert, Fischbeck Kenneth H, Sumner Charlotte J
Abstract excerpt
Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. We sequenced all genes in this region and identified two heterozygous missense mutations in the TRPV4 gene, C805T and G806A, resulting in the amino acid substitutions R269C and R269H....
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