Null mutation of any one of several members of the dystrophin protein complex can cause progressive, and possibly fatal, muscle wasting. Although these muscular dystrophies arise from mutation of a single gene that is expressed primarily in muscle, the resulting pathology is complex and multisystemic, which shows a broader disruption of homeostasis than would be predicted by deletion of a singl...

Different muscular dystrophies and myopathies can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. More than 50 loci have been associated to different forms of limb-girdle muscular dystrophy (LGMD) alone, making accurate diagnosis and genetic counseling a real challenge. This comprehensive panel is designed to achieve the highest clinical yield and enable the diff...

Different muscular dystrophies and myopathies can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. More than 50 loci have been associated to different forms of limb-girdle muscular dystrophy (LGMD) alone, making accurate diagnosis and genetic counseling a real challenge. This comprehensive panel is designed to achieve the highest clinical yield and enable the diff...