The molecular definition of limb girdle muscular dystrophies (LGMDs) is fundamental for prognostic and therapeutic purposes. Here, the authors have created an Italian LGMD registry that includes 370 molecularly defined patients. Detailed retrospective and prospective data were reviewed and each LGMD subtype was compared for differential diagnosis purposes. They found that LGMD types 2A and 2B are the most frequent forms in Italy. The ages at disease onset, clinical progression, and cardiac and respiratory involvement can vary greatly between each LGMD subtype. In a set of extensively studied patients, targeted next-generation sequencing (NGS) identified mutations in 36.5% of cases.
