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 o...
Topics
- Adult
- Age Factors
- Alleles
- Animals
- Chromosomes, Human, Pair 17
- Female
- Genetic Markers
- Genetic Variation
- Glycogen Storage Disease Type II
- Humans
- Hybrid Cells
- Infant
- Infant, Newborn
- Male
- Mice
- Mutation
- Pedigree
- alpha-Glucosidases