Since DMD and CHKB are generally known to be involved in muscular dystrophy, a de novo novel hemizygous variant in DMD (c.631T > A, p.Leu211Met) in Subject 3 and a novel homozygous variant in CHKB (c.382G > T, p. Glu128Ter) in Subject 4 imply a potential connection between autism spectrum disorder (ASD) and muscular dystrophy. Here, DMD is linked to muscular dystrophy.