Evidence-based Guideline: Diagnosis and Treatment of Limb ...

A milder phenotype of the disease, Becker Muscular Dystrophy (BMD), generally arises from in-frame deletions allowing the synthesis of a shorter but still quasi-functional protein. Deletions and duplications in the DMD gene represent 60% to 70% of the abnormalities involved in dystrophinopathies and their identification usually relies on targeted approaches such as QF-PCR and MLPA. ................
................