Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene

Neurology. 2003 Feb 25;60(4):715-7. doi: 10.1212/01.wnl.0000048661.95327.bf.

Abstract

The authors describe two novel mutations of the acid alpha-glucosidase gene, P361L and R437C, which define the juvenile-onset glycogen storage disease type II (GSDII) in a 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also a compound heterozygote of the two mutations. These results confirm that intrafamilial phenotypic variation of juvenile-onset GSDII is ethnically diverse and suggest the contribution of other genes to the phenotypic variability of GSDII.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Asian People / genetics
  • DNA Mutational Analysis
  • Enzyme Activation / genetics
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Penetrance
  • Siblings
  • alpha-Glucosidases / genetics*
  • alpha-Glucosidases / metabolism

Substances

  • alpha-Glucosidases

Associated data

  • OMIM/232300