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Article

A genetic modifier of symptom onset in Pompe disease

25 Mar 2019

Abstract excerpt

BACKGROUND: Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. This splicing variant occurs in 90% of Caucasian late onset patients, and is associated with a broad range of symptom onset. METHODS: We analyzed a cohort of 143 compound heterozygous and...

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PMID: 30922962
DOI: 10.1016/j.ebiom.2019.03.048

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