CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis

It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now.

Detalles Bibliográficos
Autores principales: Rezkalla, Nader, Imam, Kamran, Marti, Miriam, Ip, Karen, Mashhadian, Ardavan, Liu, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562840/
https://www.ncbi.nlm.nih.gov/pubmed/33088529
http://dx.doi.org/10.1002/ccr3.3054
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author Rezkalla, Nader
Imam, Kamran
Marti, Miriam
Ip, Karen
Mashhadian, Ardavan
Liu, Antonio
author_facet Rezkalla, Nader
Imam, Kamran
Marti, Miriam
Ip, Karen
Mashhadian, Ardavan
Liu, Antonio
author_sort Rezkalla, Nader
collection PubMed
description It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now.
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spelling pubmed-75628402020-10-20 CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis Rezkalla, Nader Imam, Kamran Marti, Miriam Ip, Karen Mashhadian, Ardavan Liu, Antonio Clin Case Rep Case Reports It has long been believed that the patients with thyrotoxic hypokalemic periodic paralysis (THPP) may harbor genetic mutations commonly found in familial hypokalemic periodic paralysis. Despite extensive testing, such a mutation has escaped detection until now. John Wiley and Sons Inc. 2020-07-01 /pmc/articles/PMC7562840/ /pubmed/33088529 http://dx.doi.org/10.1002/ccr3.3054 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Rezkalla, Nader
Imam, Kamran
Marti, Miriam
Ip, Karen
Mashhadian, Ardavan
Liu, Antonio
CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
title CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
title_full CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
title_fullStr CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
title_full_unstemmed CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
title_short CACNA1S Arg528Cys mutation in a young Chinese man with thyrotoxic hypokalemic periodic paralysis
title_sort cacna1s arg528cys mutation in a young chinese man with thyrotoxic hypokalemic periodic paralysis
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562840/
https://www.ncbi.nlm.nih.gov/pubmed/33088529
http://dx.doi.org/10.1002/ccr3.3054
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