Frontiers in Genetics
Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA
Background Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene. Understanding the carrier frequency and mutation spectrum in specific populations is critical for genetic counseling and early intervention. However, data on DMD carrier frequency among women of childbearing age and early pregnancy in Yueyang City, China, remain limited. This study aimed to characterize the carrier rate and mutation profile to support preventive strategies and reduce disease incidence …