An Overview on The Root Causes of Duchenne Muscular Dystrophy

The expert emphasizes the unpredictable relationship between specific mutations and clinical presentation. Some patients expected to develop milder Becker phenotype may present with more severe Duchenne features, while others with apparent DMD mutations may have unexpectedly milder progression.

Comprehensive diagnostic evaluation combining genetic mutation identification with functional protein assessment provides the most accurate basis for prognosis and therapeutic planning in dystrophinopathies.