A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

ABSTRACT: Glycogen-storage disease type II, also named Pompe disease, is caused by the deficiency of the enzyme acid alpha-glucosidase, which originates lysosomal glycogen accumulation leading to progressive neuromuscular damage. Early-onset Pompe disease shows a debilitating and frequently fulminating course. To date, more than 300 mutations have been described; the majority of them are unique to each affected individual. Most early-onset phenotypes are associated with frameshift mutations leading to a truncated alpha-glucosidase protein with loss of function. Founder effects are responsible from many cases from few highprevalence world regions. Herein we described two apparently unrelated cases affected with classical early-onset Pompe disease, both pertaining to a small region from Central Mexico

SUBMITTER: Esmer C 

PROVIDER: S-EPMC3866899 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature