Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy

Abstract

Duchenne muscular dystrophy (DMD) is an X‐linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD sequence studies fail to found the causative alteration in two cases. This study intends to evaluate the disease‐causing mutations and explains the correlation genotype‐phenotype.