A novel frameshift DMD mutation of p.Leu2017
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene encoding dystrophin, a critical structural protein for muscle fiber membrane integrity. We identified a novel hemizygous deletion in the DMD gene in a Taiwanese boy with markedly elevated creatine kinase levels and clinical features consistent with DMD by whole-exome sequencing (WES). This variant was classified as likely pathogenic according to ACMG guidelines. Comparative genomic analysis of the exon 42 spectrin-like repeat region demonstrated strong evolutionary conservation across nine vertebrate species, supporting functional importance.