Article
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2010
de Filippi Paola, Ravaglia Sabrina, Bembi Bruno, Costa Alfredo, Moglia Arrigo, Piccolo Giovanni, Repetto Alessandra, Dardis Andrea, Greco Giuseppe, Ciana Giovanni, Canevari Francesco, Danesino Cesare
Abstract excerpt
PURPOSE: The insertion/deletion polymorphism of angiotensin-converting enzyme may influence muscle properties. We examined whether Pompe disease clinical manifestations, which are known to be highly variable among late-onset patients, may be modulated by angiotensin-converting enzyme polymorphism. METHODS: We included 38 patients with late-onset Pompe disease, aged 44.6 +/- 19.8 years. We compared the...
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