GMPPB and muscular dystrophy: Using Sanger sequencing muscular dystrophy Cases 8–11 were found to have mutations in GMPPB. Case 8 has p.Gln187* and p.Ile193Thr, Cases 9 and 10 have p.Ile219Thr and p.Arg287Gln, and Case 11 has p.Pro22Ser and p.Asp334Asn mutations.