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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
    1
    1. ClingenBaseline 06 Nov 2026
      13

      Case: Patient 13, female, 59yo, symptom onset in adulthood

      CasePresentingHPOs: HP:0003701, HP:0003306, HP:0003458 (proximal muscle weakness, rigid spine, EMG: myopathic abnormalities)

      HPOsFreeText: normal CK levels, cores present on muscle biopsy

      CaseNotHPOs: no respiratory or cardiac involvement

      FamilyInfo: family history

      DiseaseEntity: no assertion

      InheritancePattern: no assertion

      CasePreviousTesting: see below

      CaseGenotypingMethod: 9 cases underwent targeted Sanger sequencing of MYH7, 12 cases underwent Motorplex analysis (NGS of 93 myopathy-related genes - PMID:25214167), all MYH7 variants confirmed via Sanger sequencing, segregation analysis performed on available family members, which cases received which sequencing technique is not specified

      Variant: NM_000257.4(MYH7):c.4315G>C (p.Ala1439Pro)

      ClinVar: 190404, https://www.ncbi.nlm.nih.gov/clinvar/variation/190404/

      gnomAD: absent

      Individual CaseInfo FamilyInfo DiseaseEntity:NoDiseaseAssertion InheritancePattern:NoInheritanceAssertion Mutation:Germline ClinVarID:190404 PreviousTesting:Additional inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4936326/