DMD-Null Mice Exhibit Severe Muscle Weakness, Impaired Regeneration, and Deficient Satellite Cell Function

The absence of dystrophin is associated with Duchenne muscular dystrophy (DMD), a fatal diseases characterized by muscle weakness and ddgeneration. Interestingly, DMD harbors multiple intragenic promoters that lead to alternative splicing and the production of various short isoforms of dystrophin, with distinct expression patterns and roles.

Recent studies have found that the expression of these short isoforms may partially modulate the DMD phenotype. Here, we aimed to assess the contributions of short dystrophin isoforms to gene expression. Bulk RNA sequencing was performed on muscles from mdx mice, which fail to produce full-length dystrophin but still express short isoforms, and on DMD-Null mice, which have a complete DMD deletion preventing the expression of any dystrophin isoform.