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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 25 Oct 2026
      19

      Patient19: Male, 21 years report, 14 year onset

      CasePresentingHPOs: HP:0001324, HP:0002098 (Muscle weakness, Respiratory distress)

      HPOsFreeText: GAA activity 9.3% from leukocyte, Respiratory Assistance needed

      CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)

      NotHPOsFreeText: Wheelchair not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:189082 ClinVarID:285197 inferred_gene_hgnc:29021 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/