Increased Ca(V)1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly

Timothy syndrome (TS) is a rare pleiotropic disorder associated with long QT syndrome, syndactyly, dysmorphic features, and neurological symptoms. Several variants in exon 8 or 8a of CACNA1C, a gene encoding the α-subunit of voltage-gated Ca(2+) channels (Ca(v)1.2), are known to cause classical TS....

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Detalles Bibliográficos
Autores principales: Ozawa, Junichi, Ohno, Seiko, Melgari, Dario, Wang, Qi, Fukuyama, Megumi, Toyoda, Futoshi, Makiyama, Takeru, Yoshinaga, Masao, Suzuki, Hiroshi, Saitoh, Akihiko, Ai, Tomohiko, Horie, Minoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9643354/
https://www.ncbi.nlm.nih.gov/pubmed/36347939
http://dx.doi.org/10.1038/s41598-022-23512-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9643354/
https://www.ncbi.nlm.nih.gov/pubmed/36347939
http://dx.doi.org/10.1038/s41598-022-23512-2

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