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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease
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    1. ClingenBaseline 25 Oct 2026
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      Case2: Male, 18 years diagnosis, 1 year onset

      CasePresentingHPOs: HP:0009073, HP:0003198, HP:0003236, HP:0003327, HP:0008994 (Progressive proximal muscle weakness, Myopathy, Increased serum CK, Axial muscle weakness, Proximal muscle weakness in lower limbs)

      HPOsFreeText: Electromyography showed myogenic damage, Vacuolar myopathy, Serum CK is 1168.3 U/L

      Individual CaseInfo ClinVarID:265160 CA891862593 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5830830/