Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations.

Abstract excerpt

BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by pathogenic variants in the DMD gene, leading to dystrophin deficiency and progressive muscle degeneration. Thousands of variants with diverse types have been reported in DMD, contributing to a broad clinical spectrum. While typically associated with severe phenotypes, pathogenic DMD variants may also cause Becker...

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