GBE1 and adult polyglucosan body disease: The WES analysis showed a heterozygous c.986A>C, p.Tyr329Ser mutation in the GBE1 gene and subsequently, Sanger sequencing of the entire gene identified a deep intronic deletion mutation in intron 15 (online supplemental table S2), which has been reported together with the p.Tyr329Ser mutation in APBD patients and resulted in markedly reduced GBE function.17 Family segregation studies showed that both mutations were on separate alleles.