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Article

Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy

23 Nov 2015

Abstract excerpt

BACKGROUND: Anoctamin 5 (ANO5) is a member of a conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity. It was recently reported that mutations in this gene result in the development of limb girdle muscular dystrophy type 2L (LGMD2L), Miyoshi myopathy type 3 (MMD3), or gnathodiaphyseal dysplasia 1...

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PMID: 26693275
DOI: 10.1186/s13395-015-0069-z

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