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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study
    1
    1. ClingenBaseline 24 Oct 2026
      9

      Case#: Patient 9, female, diagnosed 2014 (not given age of diagnosis), age 34 during study period

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None given

      CaseHPOFreeText: None given

      CaseNotHPOs: None given

      CaseNotHPOFreeText: None given

      CasePreviousTesting: None given

      Variant 1: NM_000152.5:c.-32-13T>G (unclear variant nomenclature)

      Variant 1 ClinVarID: 4027

      Variant 1 CAid: CA116606

      Variant 2: NM_000152.5:c.1802C>T

      Variant 2 ClinVarID: 194154

      Variant 2 CAid: CA274982

      ParentalGenotype: Not provided

      Individual CaseInfo DiseaseEntity:PompeDisease CAid:CA274982 CAid:CA116606 ClinVarID:194154 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC8106912/