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Article

The complex landscape of DMD mutations: moving towards personalized medicine

26 Mar 2024

Abstract excerpt

Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, with respiratory and cardiac complications, caused by mutations in the DMD gene, encoding the protein dystrophin. Various DMD mutations result in different phenotypes and disease severity. Understanding genotype/phenotype correlations is essential to optimize clinical care, as mutation-specific...

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PMID: 38596212
DOI: 10.3389/fgene.2024.1360224

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