Article
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
Muscle & nerve - 1 Jul 2009
Korpela Mari P, Paetau Anders, Löfberg Mervi I, Timonen Marjut H, Lamminen Antti E, Kiuru-Enari Sari M K
Abstract excerpt
Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid alpha-glucosidase (GAA) enzyme. Herein we report the first diagnosed Finnish patient with a phenotype compatible with the late-onset form of Pompe disease. Molecular genetic analysis of the GAA gene revealed a novel missense mutation, 1725C>A (Y575X), combined with a previously reported mutation, 1634C>T...
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