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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
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    1. ClingenBaseline 21 Oct 2026
      Detailed characteristics of these patients

      Patient1: female, 29yo, juvenile onset

      CasePresentingHPOs:

      HPOsFreeText: LOPD, BMI = 19.6;20.3;21, BiPAP use required at last follow-up, WGMS = 3;3;4

      CaseNotHPOs: HP:0002355

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2014C>T (p.Arg672Trp)

      ClinVar: 188773, https://www.ncbi.nlm.nih.gov/clinvar/variation/188773/

      gnomAD: 0.000008290, http://gnomad.broadinstitute.org/variant/17-78086800-C-T

      Variant2: NM_000152.3:c.1703A>T

      CAID: CA401369027, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401369027

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:188773 CA401369027 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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