This multicenter cohort study of 225 Japanese patients investigated the natural history of Becker muscular dystrophy (BMD) and explored genotype-phenotype correlations. The findings revealed that the severity of skeletal, cardiac, and neurological involvement varies with the type of in-frame deletions in the DMD gene. Patients with exon 45–49 deletions showed more severe skeletal impairment, while those with exon 45–47 deletions maintained better respiratory function. These insights are crucial for guiding preventive care and therapeutic strategies in BMD management.

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