Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

Abstract excerpt

Pompe disease, or glycogen storage disease II is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α-1,4-glucosidase enzyme (GAA). The severity of disease and observed time of onset is subject to the various combinations of heterozygous GAA alleles. Here we have characterized two novel mutations: c.2074C>T and c.1910_1918del, and a previously reported c.1082C>G mutation...

Topics

• Adult
• Alleles
• Codon, Nonsense
• Female
• Genetic Predisposition to Disease
• Glucan 1,4-alpha-Glucosidase
• Glycogen Storage Disease Type II
• Heterozygote
• Humans
• Male
• Middle Aged
• Mutation
• Mutation, Missense
• Phenotype
• Sequence Deletion