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  1. Sep 2022
    1. 2

      Case#: Subject number 2, 37 years

      DiseaseAssertion: Late Onset Pompe disease

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0008994 (proximal muscle weakness in lower limbs), HP:0003325 (limb-girdle muscle weakness), HP:0003701 (proximal muscle weakness), HP:0003691 (scapular winging), HP:0002355 (difficulty walking).

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Serum creatin kinase was 7.7 μkat/l

      glucosidase activity: Whole uncoagulated blood samples used for leukocyte and DNA isolations.

      GAA activity (w/o acarbose) 35 nmol.h.mg–1 (control 37±14).

      8 nmol.h.mg–1 (with acarbose) (control 16±6).

      Ratio of with/w/o acarbose is 0.24 (control 0.42±0.08).

      Variant 1: NM_000152.5(GAA):c.-32-13T>G

      Variant 1 ClinVarID: 4027

      Variant 1 CAid: CA116606

      Variant 2: NM_000152.5(GAA):c.1456G>C

      Variant 2 ClinVarID: N/A

      Variant 2 CAid: CA401366835

      Zygosity: compund heterozygous

      ParentalGenotype: N/A

      PreviouslyPublished: N/A