Article
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
Annals of neurology - 1 Sept 1995
Wokke J H, Ausems M G, van den Boogaard M J, Ippel E F, van Diggelene O, Kroos M A, Boer M, Jennekens F G, Reuser A J, Ploos van Amstel H K
Abstract excerpt
We performed a clinical, biochemical, and genetic study in 16 patients from 11 families with adult-onset acid maltase deficiency. All patients were compound heterozygotes and carried the IVS1(-13T --> G) transversion on one allele; the second allele harbored either a deletion of a T at position 5...
Topics
- Adolescent
- Adult
- Age of Onset
- Alleles
- Base Sequence
- DNA
- Female
- Genotype
- Glucan 1,4-alpha-Glucosidase
- Glycogen Storage Disease Type II
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Phenotype
- alpha-Glucosidases