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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
      5

      Case#: Patient 5, male, diagnosed 2010 (not given age of diagnosis), age 44 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>A (unclear variant nomenclature)

      Variant 1 ClinVarID: N/A

      Variant 1 CAid: CA913184742

      Variant 2: NM_000152.5:c.2331+2T>G

      Variant 2 ClinVarID: N/A

      Variant 2 CAid: CA401324960

      ParentalGenotype: Not provided

      CAid:CA401324960 Individual CaseInfo DiseaseEntity:PompeDisease CAid:CA913184742 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC8106912/