DMD and neuromuscular disease caused by qualitative or quantitative defects of dystrophin: Key updates and additions since the 2010 guidelines include: use of NGS in diagnostics; non-invasive prenatal diagnosis; guidance on sequence variant annotation and interpretation; atypical findings; implications for personalised medicine and clinical trials; and identification of DMD gene variants in patients where a clinical diagnosis of dystrophinopathy has not been suspected (incidental findings).