Recent studies on dilated cardiomyopathy caused by TTN mutations in children / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 217-222, 2023.
Article
em Zh
| WPRIM
| ID: wpr-971063
Biblioteca responsável:
WPRO
ABSTRACT
The mutations of TTN gene that encodes titin are the most common mutation type among the genetic causes of dilated cardiomyopathy (DCM). This article reviews the worldwide studies on potential molecular pathogenesis (transcription, post-translational modification, etc.), clinical phenotypes, and gene therapies of pediatric DCM caused by TTN mutations, with the hope of providing a reference for the precision treatment of pediatric DCM caused by TTN mutations.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Fenótipo
/
Cardiomiopatia Dilatada
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Terapia Genética
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Conectina
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Mutação
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2023
Tipo de documento:
Article