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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
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    1. ClingenBaseline 24 Oct 2026
      12

      Patient12: Male, 19 years report, 13 years onset

      CasePresentingHPOs: HP:0001324 (Muscle weakness)

      HPOsFreeText: GAA activity 9.9% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:188809 ClinVar:553981 inferred_gene_hgnc:257 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/