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Neurology 2003;60:715-717
© 2003 American Academy of Neurology
Brief Communications

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

C. W. Lam, MBChB PhD, Y. P. Yuen, MBChB, K. Y. Chan, MBBS, S. F. Tong, MSc, C. K. Lai, MSc, T. C. Chow, MPhil, K. C. Lee, MBBS, Y. W. Chan, MD and F. Martiniuk, PhD

From the Department of Chemical Pathology (Dr. Lam and S.F. Tong), The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong; Departments of Pathology (Drs. Yuen, Lee, and Chan, C. Lai and T. Chow) and Pediatrics (Dr. Chan), Princess Margaret Hospital, Hong Kong, China; and Department of Medicine (Dr. Martiniuk), Pulmonary Division, New York University School of Medicine, New York, NY.

Address correspondence and reprint requests to Dr. Ching-Wan Lam, Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China; e-mail: ching-wanlam{at}cuhk.edu.hk

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.