The identification of a novel splicing mutation in the DMD gene of a Chinese family

Abstract

Abstract The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices.

Keywords

• c.2293‐1G>C
• DMD gene
• minigene
• splicing mutation