NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
dilated cardiomyopathy
hypertrophic cardiomyopathy
mutation
phenotype
prognosis
Journal
Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113
Informations de publication
Date de publication:
07 Dec 2023
07 Dec 2023
Historique:
medline:
7
12
2023
pubmed:
7
12
2023
entrez:
7
12
2023
Statut:
aheadofprint
Résumé
Few clinical data are available on DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death/sudden infant death syndrome/idiopathic ventricular fibrillation were sequenced with a custom panel of genes. Index cases carrying at least one putative pathogenic variant in the Of the 9516 index patients sequenced, 31 were carriers of a putative pathogenic variant in Putative pathogenic
Sections du résumé
BACKGROUND
UNASSIGNED
Few clinical data are available on
METHODS
UNASSIGNED
DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death/sudden infant death syndrome/idiopathic ventricular fibrillation were sequenced with a custom panel of genes. Index cases carrying at least one putative pathogenic variant in the
RESULTS
UNASSIGNED
Of the 9516 index patients sequenced, 31 were carriers of a putative pathogenic variant in
CONCLUSIONS
UNASSIGNED
Putative pathogenic
Identifiants
pubmed: 38059363
doi: 10.1161/CIRCGEN.123.004285
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM