The identification of a novel splicing mutation in the DMD gene of a
The Duchenne Muscular Dystrophy (DMD) gene variants are associated with
the disease phenotypes. The pathogenic mutation,
c.2293-1G>C, was detected in DMD gene in the proband and
the fetus, which has not been reported in the literature.The minigene
expression in vitro confirmed that c.2293-1G>C is
responsible of aberrant splicing.