Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
children
dilated cardiomyopathy
heart failure
neuromuscular disease
titin (TTN)
titinopathy
truncating variant
Journal
Frontiers in cardiovascular medicine
ISSN: 2297-055X
Titre abrégé: Front Cardiovasc Med
Pays: Switzerland
ID NLM: 101653388
Informations de publication
Date de publication:
2023
2023
Historique:
received:
22
04
2023
accepted:
10
07
2023
medline:
14
8
2023
pubmed:
14
8
2023
entrez:
14
8
2023
Statut:
epublish
Résumé
Monoallelic and biallelic We reviewed the medical records of pediatric patients with biallelic Five pediatric patients (four male) with biallelic Biallelic
Sections du résumé
Background
UNASSIGNED
Monoallelic and biallelic
Methods
UNASSIGNED
We reviewed the medical records of pediatric patients with biallelic
Results
UNASSIGNED
Five pediatric patients (four male) with biallelic
Conclusion
UNASSIGNED
Biallelic
Identifiants
pubmed: 37576110
doi: 10.3389/fcvm.2023.1210378
pmc: PMC10415037
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1210378Informations de copyright
© 2023 Baban, Cicenia, Magliozzi, Parlapiano, Cirillo, Pascolini, Fattori, Gnazzo, Bruno, De Luca, Di Chiara, Francalanci, Udd, Secinaro, Amodeo, Bertini, Savarese, Drago and Novelli.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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