Andersen-Tawil Syndrome: Clinical presentation and predictors of symptomatic arrhythmias - possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene

BACKGROUND: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS. METHODS:...

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Detalhes bibliográficos
Publicado no:J Cardiol
Main Authors: Krych, Michalina, Biernacka, Elżbieta Katarzyna, Ponińska, Joanna, Kukla, Piotr, Filipecki, Artur, Gajda, Robert, Hasdemir, Can, Antzelevitch, Charles, Kosiec, Agnieszka, Szperl, Małgorzata, Płoski, Rafał, Trusz-Gluza, Maria, Mizia-Stec, Katarzyna, Hoffman, Piotr
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5607087/
https://ncbi.nlm.nih.gov/pubmed/28336205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jjcc.2017.01.009
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