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Article

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

American journal of human genetics - 1 Jan 1990

Hoefsloot L H, van der Ploeg A T, Kroos M A, Hoogeveen-Westerveld M, Oostra B A, Reuser A J

Abstract excerpt

To define the cause of clinical heterogeneity in glycogenosis type II we have studied the inheritance and molecular nature of acid alpha-glucosidase deficiency in a rare family with severe infantile as well as mild late-onset variants of this disease. The (mutant) acid alpha-glucosidase alleles of crucial family members were segregated in human-mouse somatic cell hybrids to investigate their individual function....

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PMID: 2403755
PMCID: PMC1683537

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