Archives de pediatrie : organe officiel de la Societe francaise de pediatrieHumansMuscular DystrophyDuchenneMaleRetrospective Studies
Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing.
Siyi Gan, Li Xu, Hongmei Liao, Liwen Wu
Published: 202510.1016/j.arcped.2025.07.002
Abstract
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, but comprehensive analyses of mutational patterns and clinical correlations remain limited. OBJECTIVE: To characterize the DMD mutational spectrum and its clinical…
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