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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 24 Oct 2026
  
  in Baseline Annotations
  
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  Case1: Male, 42 years diagnosis, 1 year onset
  
  CasePresentingHPOs: HP:0009073, HP:0003198, HP:0003236, HP:0003327 (Progressive proximal muscle weakness, Myopathy, Increased serum CK, Axial muscle weakness)
  
  HPOsFreeText: Electromyography showed myogenic damage, Vacuolar myopathy, Serum CK is 1325.6 U/L
  
  Individual CaseInfo CA401365164 CA401364766 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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CA401365164

inferred_gene_hgnc:4065

CA401364766

inferred_gene_source:CAID

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GAA variant

CaseInfo

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ClingenBaseline

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ncbi.nlm.nih.gov/pmc/articles/PMC5830830/