Table 3.

Proportion of Individuals with Selected GAA Pathogenic Variants

GAA Pathogenic Variant% of Affected IndividualsReference
p.Glu176ArgfsTer45 34% of Dutch population Van der Kraan et al [1994]
9% of US population Hirschhorn & Huie [1999]
p.Gly828_Asn882del 25% of Dutch & Canadian infants Van der Kraan et al [1994]
5% of US population Hirschhorn & Huie [1999]
c.-32-13T>G 36%-90% of persons w/late-onset GSD IIHermans et al [2004], Montalvo et al [2006]
p.Asp645Glu ≤80% of Taiwanese & Chinese infants Shieh & Lin [1998]
p.Arg854Ter ≤60% of persons of African descent w/a common phenotype Becker et al [1998]

From: Pompe Disease

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