Abstract
Anoctamin-5 is a 913-amino acid protein whose exact function is still unknown, but it is predicted to be a calcium-activated chloride channel [1]. Autosomal dominant mutations in ANO5 gene are known to cause gnathodiaphyseal dysplasia. Recessive mutations in ANO5 gene have emerged as a major cause of both proximal limb-girdle muscular dystrophy and Miyoshi-like distal myopathy [2–4], and therefore LGMD2L is one of the most common forms of LGMD in Europe, with a prevalence similar to the sarcoglycanopathies. In Northern Europe this is the third most common form of LGMD due to a founder mutation (c.191duplA) [2].
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