1 Matching Annotations
  1. Last 7 days
  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
    1
    1. ClingenBaseline 22 Oct 2026
      4

      Case4: Female, 16 years diagnosis, 13 years 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 1652.0 U/L

      Individual CaseInfo ClinVarID:280063 CA401363493 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

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