SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

SCN5A mutations involving the α-subunit of the cardiac voltage-gated muscle sodium channel (NaV1.5) result in different cardiac channelopathies with an autosomal-dominant inheritance such as Brugada syndrome. On the other hand, mutations in SCN4A encoding the α-subunit of the skeletal voltage-gated...

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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Bissay, Véronique, Van Malderen, Sophie CH, Keymolen, Kathelijn, Lissens, Willy, Peeters, Uschi, Daneels, Dorien, Jansen, Anna C, Pappaert, Gudrun, Brugada, Pedro, De Keyser, Jacques, Van Dooren, Sonia
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755372/
https://ncbi.nlm.nih.gov/pubmed/26036855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.125
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