Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
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Lam CW, Yuen YP, Chan KY, Tong SF, Lai CK, Chow TC, Lee KC, Chan YW, Martiniuk F
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
Neurology. 2003 Feb 25;60(4):715-7.
- PubMed ID
- 12601120 [ View in PubMed]
- 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.