CRPPA and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan: LGMD R7 telethonin-related was found in 14.6% (6/41) of index patients, and dystroglycanopathies (including mutations in FKRP, POMT1, POMT2 and ISPD) were found in 12.2% (5/41) of index patients.