Abstract
Limb-girdle muscular dystrophies (LGMDs) represent a genetically and clinically heterogeneous group of muscular dystrophies predominantly affecting shoulder and pelvic girdles. To date, 15 forms of autosomal recessive (AR) and 7 forms of autosomal dominant (AD) LGMDs have been described. Mutations in many different genes encoding the sarcomeric, nuclear envelope, sarcolemmal and cytosolic proteins are responsible for the different forms of LGMDs. Involvement of genes causing posttranslational modifications of α-dystroglycan was demonstrated in the pathogenesis of several AR LGMDs.
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