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  2. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
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    1. ClingenBaseline 24 Oct 2026
      8

      Patient8: Female, Serbian, mid 70s

      CasePresentingHPOs: HP:0003325

      HPOsFreeText: Normal CK levels

      CaseNotHPOs: HP:0003236, HP:0002093

      CaseAddInfo: late onset

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.2051C>G

      CAID: CA401370340, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401370340

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Individual CaseInfo Variant CA401370340 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-017-0722-1
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pompe disease in Austria: clinical, genetic and epidemiological aspects
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    ncbi.nlm.nih.gov/pmc/articles/PMC5760608/