A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II

摘要: A novel mutation, C118t, in exon 2 of the acid α-glucosidase gene has been found an infant with glycogen storage disease type II. This mutation is predicted to result protein truncation. The phenotype was that severe infantile form disorder lack motor development, but eye regard, social smile and vocalization. parents were heterozygous for C118T belong Islamic community opposed termination pregnancy. As results loss one two AvaI sites present informative PCR product, reliable premarriage carrier detection became possible acceptable members this extended family.