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Review Open access Aug 2026

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...

N. Chabbi, Corrado Angelini, I. García et al. · 0 citations

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