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    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
      5

      Patient5: male, Romanian

      CasePresentingHPOs: HP:0003677, HP:0003236, HP:0003325, HP:0003418, HP:0008997

      HPOsFreeText: CK > 10x increase, CK = 1500 U/L, reduced alpha-glucosidase activity

      CaseNotHPOs: HP:0002093

      CaseAddInfo: onset in middle age, enzyme activity also reduced in daughter

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2066_2070dupAGCCG (p.Ala691Serfs)

      ClinVar: 92471, https://www.ncbi.nlm.nih.gov/clinvar/variation/92471/

      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 EnzymeActivity ClinVarID:92471 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-017-0722-1