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    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
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    1. ClingenBaseline 23 Oct 2026
      38

      Patient38: Male, 20 years report, 2 year onset

      CasePresentingHPOs: HP:0001324, HP:0002098, HP:0002527 (Muscle weakness, Respiratory distress, Falls)

      HPOsFreeText: GAA activity 2.7% from leukocyte, Wheelchair needed, Respiratory Assistance needed

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

      NotHPOsFreeText: N/A

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:495664 ClinVarID:550825 inferred_gene_hgnc:7765 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/