Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
case_report · Level V
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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.
Medical subject headings
- Glycogen Storage Disease Type II
- Mutation, Missense
- alpha-Glucosidases