DMD and neuromuscular disease caused by qualitative or quantitative defects of dystrophin: However, the precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as non-canonical splicing site variants, deep intronic splice-altering variants (DISVs), and/or complex structural variants do exist in DMD (7, 8) or sarcoglycan (1, 6, 9–13) genes.