DMD and Becker muscular dystrophy: The novel pathogenic SV missed by short-read whole DMD gene sequencing is a ∼6-kb-long interspersed nuclear element-1 (LINE-1) insertion/non-tandem duplication rearrangement, causing partial exonization of the LINE-1 in addition to the normal splicing of DMD, which ultimately established a genetic diagnosis of BMD in the patient.