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    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    1
    1. ClingenBaseline 25 Oct 2026
      4

      Patient4: 19yo

      CasePresentingHPOs:

      HPOsFreeText: hyperCKemia, GAA = 24%, BMI = 26.1, normal CTA and CT

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 12yr disease duration

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1771C>T (p.Arg591Trp)

      ClinVar: 551782, https://www.ncbi.nlm.nih.gov/clinvar/variation/551782/

      gnomAD: 8.662e-06, http://exac.broadinstitute.org/variant/17-78086393-C-T

      Individual Variant CaseInfo EnzymeActivity ClinVarID:551782 inferred_gene_hgnc:6294 inferred_gene_source:ClinVar GAA variant
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    link.springer.com/article/10.1007/s10545-015-9913-x