Identification of a de novo point mutation resulting in infantile form of Pompe's disease.


One patient in a nonconsanguineous Taiwanese family with infantile glycogen storage disease type II (Pompe's) disease was found to have a de novo mutation of G1933 to C transition [corrected] in exon 14 of the human lysosomal alpha-D-glucosidase gene. Patient was homozygous and both parents were heterozygous for the mutant allele. The mutation caused an Asp… (More)


  • Presentations referencing similar topics