4 Matching Annotations
  1. Oct 2026
  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
    4
    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
    2. ClingenBaseline 23 Oct 2026
      1

      Case#: Patient 1, male, diagnosed 2000 (not given age), age 62 during study period

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None given

      CaseHPOFreeText: Requires B-pap at night

      CaseNotHPOs: None given

      CaseNotHPOFreeText: None given

      CasePreviousTesting: None given

      Variant 1: NM_000152.5:c.-32-13T>A

      Variant 1 ClinVarID: N/A

      Variant 1 CAid: CA913184742

      Variant 2: NM_000152.5:c.1003G>A

      Variant 2 ClinVarID: 972790

      Variant 2 CAid: CA501005

      ParentalGenotype: Not provided

      Individual CaseInfo CAid:CA913184742 CAid:CA501005 ClinVarID:972790 DiseaseEntity:PompeDisease inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 22 Oct 2026
      2

      Case#: Patient 2, female, diagnosed 2010 (not given age), age 43 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

      Variant 1 ClinVarID:

      Variant 1 CAid: CA913184742

      Variant 2: NM_000152.5:c.307T>G

      Variant 2 ClinVarID: 92483

      Variant 2 CAid: CA220404

      ParentalGenotype: Not provided

      CAid:CA913184742 Individual CaseInfo CAid:CA220404 ClinVarID:92483 DiseaseEntity:PompeDisease inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    4. ClingenBaseline 21 Oct 2026
      4

      Case#: Patient 4, male, diagnosed 2015 (not given age of diagnosis), age 42 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.525del

      Variant 2 ClinVarID: 4033

      Variant 2 CAid: CA220406

      ParentalGenotype: Not provided

      Individual CaseInfo CAid:CA913184742 DiseaseEntity:PompeDisease CAid:CA220406 ClinVarID:4033 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC8106912/