Skip to main content

Research Repository

Advanced Search

Outputs (2)

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. (2010)
Journal Article
Bolduc, V., Marlow, G., Boycott, K., Saleki, K., Inoue, H., Kroon, J., …Brais, B. (2010). Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. American Journal of Human Genetics, 86(2), 213-221. https://doi.org/10.1016/j.ajhg.2009.12.013

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... Read More about Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies..