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    A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy
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    1. ClingenBaseline 24 Oct 2026
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      CaseII.1: 25 year old female

      DiseaseAssertion: moderate left ventricular hypertrophy

      FamilyInfo: All the members of the family were studied, four affected individuals aged 10–52 years presenting with restrictive phenotype but with minimal or no LVH

      CasePresentingHPOs: HP:0002875

      "Exertional dyspnea"

      CaseHPOFreeText: exertional dyspnoea and oedema in lower extremities

      GenotypingMethod: genetic analysis of all family members

      Variant: NM_000257.4:c.755T>C

      ClinVar: 179894

      CAID: CA016801

      gnomAD: not found

      CAID:CA016801 ClinVarID:179894 CaseInfo FamilyInfo DiseaseEntity:LVH PreviousTesting:None InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    academic.oup.com/eurheartj/article/36/3/178/2887648