Different Types of Mutations Appear to Predict Pompe Subtypes

Different Types of Mutations Appear to Predict Pompe Subtypes

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Different Types of Mutations Appear to Predict Pompe Subtypes

The type of genetic mutation carried by a Pompe disease patient appears to predict whether the disease is infantile- or late-onset, according to a study. However, newly diagnosed patients should still undergo complete genetic, cardiac, and neurological tests, scientists stated. The study, “Phenotypic implications of pathogenic variant types in Pompe disease,” was published in the Journal of Human Genetics. Pompe disease can be categorized as infant-onset (IOPD) or late-onset (LOPD) and the tests for either generally…

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