Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.

•Muscle mRNA analysis enables detection of deep intronic variants in DMD.•Common SNV facilitates the activation of a probable cryptic splice site.•Two SNVs (c.650–39575 A>C; c.650-39498 A>G) activate a pseudoexon in intron 7 of DMD.•Young boy with clinical BMD phenotype displays DMD genotype with frameshift mutation.