TMEM43 and muscular dystrophy: The targeted comprehensive muscular dystrophy (CMD) and neuromuscular (NM) panel was performed at Invitae (San Francisco, CA, USA) and did not return any pathogenic variants but did reveal three variants of uncertain significance (VUS): MYL2 (c.710A>G; p.Lys237Arg), MYL2 (c.141C>A; p.Asn47Lys), and TMEM43 (c.403G>A; p.Glu135Lys) in the proband.