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 525 in exon 2 (7 probands, 64%) or a deletion of exon 18 (1 proband, 9%). Deterioration of handicap was related to age,...
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