Research progress on phenotype and mechanism of cardiac disease caused by CACNA1C gene mutations / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 1587-1590, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-823675
ABSTRACT
Mutations in the CACNA1 C gene which encodes the α1 C subunit of voltage dependent Ⅰ-type Ca2 + channel can cause mental and cardiovascular diseases.It is the pathogenic gene of Timothy syndrome.Its cardiovascular-system phenotype mainly includes long QT syndrome,Brugada syndrome,short QT syndrome,etc.In recent years,it has been found that CACNA1C gene mutations can also lead to non-syndromic phenotypes,including congenital heart disease,cardiomyopathy,etc,further enriching the clinical phenotype of CACNA1C gene mutation.Now,the recent advances in heart disease phenotypes and mechanisms involved in CACNA1C gene mutations are reviewed.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Applied Clinical Pediatrics
Year:
2019
Type:
Article
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