Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).

Abstract excerpt

Glycogen storage disease type II (GSDII) results from deleterious mutations in acid alpha-glucosidase gene. To date several mutant alleles have been studied including missense and nonsense mutations, insertions, small and large deletions as well as splice site mutations. Apart from IVS1 (- 13-->G), 525delT, and Delta18, the other mutations are rare and often unique to single patients. Moreover, the molecular...

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