Article
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Molecular genetics and metabolism - 1 Jan 2000
Austin Stephanie L, Chiou Andrew, Sun Baodong, Case Laura E, Govendrageloo Kenny, Hansen Perrin, Kishnani Priya S
Abstract excerpt
OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed...
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