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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 21 Oct 2026
  
  in Baseline Annotations
  
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  Case3: Female, 22 years diagnosis, 19 years onset
  
  CasePresentingHPOs: HP:0009073, HP:0003198 (Progressive proximal muscle weakness, Myopathy)
  
  HPOsFreeText: Electromyography showed myogenic damage, Vacuolar myopathy, Serum CK is 73.5 U/L
  
  Individual CaseInfo ClinVarID:189082 CA401370338 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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inferred_gene_hgnc:4065

CA401370338

CaseInfo

inferred_gene_source:CAID

GAA variant

ClinVarID:189082

Individual

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