CRPPA and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan: In a paediatric cohort of dystroglycanopathies with British and Turkish background, ISPD mutations have been found to cause LGMD in seven probands, including four LGMD cases with normal cognitive development (LGMD – no MR); two LGMD cases with cerebellar involvement (LGMD-CRB); and one case of LGMD with mental retardation, but without structural brain abnormalities (LGMD-MR) [28].