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  2. journals.plos.org journals.plos.org
    Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy
    2
    1. ClingenBaseline 24 Oct 2026
      Detailed characteristics of these patients

      Patient11: female, 49yo, adult onset

      CasePresentingHPOs:

      HPOsFreeText: LOPD, BMI = 21 / 19.4 / 20.2, WGMS = 2 / 2-3 / 3

      CaseNotHPOs: HP:0002355

      NotHPOsFreeText: did not require respiratory support

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: 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

      Variant2: NM_000152.3:c.1291_1299del

      CAID: CA658795248, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795248

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 CA658795248 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 24 Oct 2026
      Detailed characteristics of these patients

      Patient7: male, 40yo, adult onset

      CasePresentingHPOs:

      HPOsFreeText: LOPD, BMI = 25.1 / 22.9 / 22.9, WGMS = 3 / 3 / 3

      CaseNotHPOs: HP:0002355

      NotHPOsFreeText: did not require respiratory support

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: 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

      Variant2: NM_000152.3:c.1291_1299del

      CAID: CA658795248, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795248

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 CA658795248 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    journals.plos.org/plosone/article