Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

BACKGROUND: Gain-of-function mutations in CACNA1C encoding Cav1.2 cause syndromic or non-syndromic type-8 long QT syndrome (LQTS) (sLQT8 or nsLQT8). The cytoplasmic domain (D)Ⅰ-Ⅱ linker in Cav1.2 plays a pivotal role in calcium channel inactivation, and mutations in this site have been associated wi...

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Detalles Bibliográficos
Autores principales: Nakajima, Tadashi, Kawabata-Iwakawa, Reika, Tamura, Shuntaro, Hasegawa, Hiroshi, Kobari, Takashi, Itoh, Hideki, Horie, Minoru, Nishiyama, Masahiko, Kurabayashi, Masahiko, Kaneko, Yoshiaki, Ishii, Hideki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302756/
https://www.ncbi.nlm.nih.gov/pubmed/35862440
http://dx.doi.org/10.1371/journal.pone.0271796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302756/
https://www.ncbi.nlm.nih.gov/pubmed/35862440
http://dx.doi.org/10.1371/journal.pone.0271796

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