Clara Lépée-Aragón

Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD

Primary dystrophin deficiency, caused by X-chromosome mutations within the DMD gene, encompasses a continuous clinical spectrum of neurological, muscular, and cardiac disorders known as dystrophinopathies that exhibit profound phenotypic variability driven by specific mutation profiles and epigenetic factors. This comp...