[Calpainopathies: state of the art and therapeutic perspectives].

Abstract excerpt

Calpainopathies are inherited limb-girdle muscular dystrophies, most often following an autosomal recessive (AR) transmission. Autosomal dominant (AD) forms with less severe presentation are increasingly reported. Calpainopathies with autosomal recessive (AR) mutations of the calpain3 gene (CAPN3) are associated with limb girdle muscular dystrophy type R1 (LGMD-R1, OMIM 253600) also referred to as LGMD-2A...

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