Fourteen years ago, the first disease-causing mutation in a form of autosomal recessive limb-
girdle muscular dystrophy was reported. Since then the number of genes has been
extended to at least 14 and the phenotypic spectrum has been broadened. The generation
of mouse models helped to improve our understanding of the pathogenesis of the disease
and also served to study therapeutic possibilities. All autosomal recessive limb-girdle
muscular dystrophies are rare diseases, which is one reason why there have been so very …