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    MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
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    1. ClingenBaseline 23 Oct 2026
      7

      Case: Patient 7, male, 8yo, congenital onset of symptoms

      CasePresentingHPOs: HP:0003327, HP:0002650, HP:0030682, HP:0003458 (axial muscle weakness, scoliosis, left ventricular noncompaction, EMG: myopathic abnormalities)

      HPOsFreeText: minicores present on muscle biopsy

      FamilyInfo: no 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_000257.3:c.5655+1G>A

      CAID: CA389034770, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389034770

      gnomAD: absent

      Individual CaseInfo FamilyInfo DiseaseEntity:NoDiseaseAssertion InheritancePattern:NoInheritanceAssertion Mutation:Germline CAID:CA389034770 PreviousTesting:Additional inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4936326/