Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism

To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca(+2) channel [CACNA1C (Ca(v)1.2α1)] was identified.

Detalles Bibliográficos
Autores principales: Canpolat, Uğur, Coteli, Cem, Aytemir, Kudret
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357834/
https://www.ncbi.nlm.nih.gov/pubmed/28401855
http://dx.doi.org/10.1016/j.ipej.2017.01.002
Descripción
Sumario:To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca(+2) channel [CACNA1C (Ca(v)1.2α1)] was identified.

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