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Anoctamin 5: A New Candidate Gene For Portuguese Patients With Adult Onset Limb...

Introduction: The limb-girdle muscular dystrophies (LGMDs) show wide genetic and clinical heterogeneity. Recessive mutations in the ANO5 gene, which encodes a putative calcium-activated chloride channel of the anoctamin family, have been recently identified in families with LGMD type 2L and non-dysferlin distal muscular dystrophy (MMD3). The LGMD2L phenotype is characterized by proximal weakness, with prominent...