title: Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
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.
authors.affiliation: Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, China. ching-wanlam@cuhk.edu.hk
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: Y P
authors.initials: YP
authors.lastname: Yuen
authors.forename: K Y
authors.initials: KY
authors.lastname: Chan
authors.forename: S F
authors.initials: SF
authors.lastname: Tong
authors.forename: C K
authors.initials: CK
authors.lastname: Lai
authors.forename: T C
authors.initials: TC
authors.lastname: Chow
authors.forename: K C
authors.initials: KC
authors.lastname: Lee
authors.forename: Y W
authors.initials: YW
authors.lastname: Chan
authors.forename: F
authors.initials: F
authors.lastname: Martiniuk
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D004789:Enzyme Activation / Q000235:genetics; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D019683:Penetrance; D035781:Siblings; D000520:alpha-Glucosidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D000520:alpha-Glucosidases