FKRP and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan: Dystroglycanopathies have a wide spectrum of clinical phenotypes, ranging from severe congenital muscular dystrophy to a relatively milder form of LGMD [18, 19]. Among LGMD-related dystroglycanopathies, LGMD-R9-FKRP-related is the most frequent in North-European populations, with an estimated prevalence of 5.7–11.4 per million individuals [20, 21].