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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

1
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  13
  
  Patient13: Male, 1 year onset
  
  CasePresentingHPOs: HP:0001324, HP:0002098 (Muscle weakness, Respiratory distress)
  
  HPOsFreeText: GAA activity 4.9% from leukocyte, Wheelchair needed, Respiratory Assistance needed
  
  CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)
  
  NotHPOsFreeText: N/A
  
  CaseAddInfo: LOPD
  
  Individual CaseInfo CA8815635 CA401362012 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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inferred_gene_hgnc:4065

CA8815635

CaseInfo

inferred_gene_source:CAID

CA401362012

GAA variant

Individual

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ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5671405/