Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families.

Abstract excerpt

The intrafamilial variability of late-onset glycogen storage disease type II was studied in siblings of 18 patients and in reports in the literature. Siblings of seven of the 18 index cases opted for DNA testing or enzyme studies after being informed by the index case of the availability of testing, and after genetic counselling. Of the 12 siblings tested, five asymptomatic individuals were diagnosed (mean age,...

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