Titin copy number variations associated with dominant inherited phenotypes.
genetics
genomics
human genetics
neuromuscular diseases
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
07 Dec 2023
07 Dec 2023
Historique:
received:
22
06
2023
accepted:
18
10
2023
pubmed:
8
11
2023
medline:
8
11
2023
entrez:
7
11
2023
Statut:
aheadofprint
Résumé
Titinopathies are caused by mutations in the titin gene ( Our study includes eight families with dominant titinopathies. We performed next-generation sequencing or comparative genomic hybridisation array analyses and found CNVs in the Seven deletion-type CNVs in the Identifying
Sections du résumé
BACKGROUND
BACKGROUND
Titinopathies are caused by mutations in the titin gene (
METHODS
METHODS
Our study includes eight families with dominant titinopathies. We performed next-generation sequencing or comparative genomic hybridisation array analyses and found CNVs in the
RESULTS
RESULTS
Seven deletion-type CNVs in the
CONCLUSION
CONCLUSIONS
Identifying
Identifiants
pubmed: 37935568
pii: jmg-2023-109473
doi: 10.1136/jmg-2023-109473
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.