Article
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
American journal of human genetics - 12 Feb 2010
Bolduc Véronique, Marlow Gareth, Boycott Kym M, Saleki Khalil, Inoue Hiroshi, Kroon Johan, Itakura Mitsuo, Robitaille Yves, Parent Lucie, Baas Frank, Mizuta Kuniko, Kamata Nobuyuki, Richard Isabelle, Linssen Wim H J P, Mahjneh Ibrahim, de Visser Marianne, Bashir Rumaisa, Brais Bernard
Abstract excerpt
The recently described human anion channel Anoctamin (ANO) protein family comprises at least ten members, many of which have been shown to correspond to calcium-activated chloride channels. To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia. We have identified recessive mutations in ANO5 that...
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