Abstract

The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of rare, genetic and progressive muscle disorders, with predominant involvement of the pelvic and shoulder girdle muscles. The heart and respiratory muscles can sometimes also be involved. The estimated prevalence for all forms of LGMDs ranges from 1/44000 to 1/123000. Muscle biopsy in LGMDs shows dystrophic changes consisting of necrotic and regenerating muscle fibers, that result in an increased creatine kinase (CK) level in serum.

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