A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA

We report a 4-generation Turkish family with 10 affected members presenting with myotonia and potassium- and exerciseinduced paralytic attacks. The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities po...

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Autores principales: Lehmann-Horn, F., Orth, M., Kuhn, M., Jurkat-Rott, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2011
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235863/
https://www.ncbi.nlm.nih.gov/pubmed/22106717
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author Lehmann-Horn, F.
Orth, M.
Kuhn, M.
Jurkat-Rott, K.
author_facet Lehmann-Horn, F.
Orth, M.
Kuhn, M.
Jurkat-Rott, K.
author_sort Lehmann-Horn, F.
collection PubMed
description We report a 4-generation Turkish family with 10 affected members presenting with myotonia and potassium- and exerciseinduced paralytic attacks. The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities potassiumaggravated myotonia, paramyotonia congenita, and hyperkalemic periodic paralysis. It is best described by a combination of potassium-aggravated myotonia and hyperkalemic periodic paralysis. We excluded exonic chloride channel mutations including CLCN1 exon deletion/duplication by MLPA. Instead we identified a novel p.N440K sodium channel mutation that is located at the inner end of segment S6 of repeat I. We discuss the genotype phenotype relation.
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spelling pubmed-32358632012-01-20 A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA Lehmann-Horn, F. Orth, M. Kuhn, M. Jurkat-Rott, K. Acta Myol Original Articles We report a 4-generation Turkish family with 10 affected members presenting with myotonia and potassium- and exerciseinduced paralytic attacks. The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities potassiumaggravated myotonia, paramyotonia congenita, and hyperkalemic periodic paralysis. It is best described by a combination of potassium-aggravated myotonia and hyperkalemic periodic paralysis. We excluded exonic chloride channel mutations including CLCN1 exon deletion/duplication by MLPA. Instead we identified a novel p.N440K sodium channel mutation that is located at the inner end of segment S6 of repeat I. We discuss the genotype phenotype relation. Pacini Editore SpA 2011-10 /pmc/articles/PMC3235863/ /pubmed/22106717 Text en The journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy, Naples, Italy http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Original Articles
Lehmann-Horn, F.
Orth, M.
Kuhn, M.
Jurkat-Rott, K.
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA
title A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA
title_full A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA
title_fullStr A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA
title_full_unstemmed A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA
title_short A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA
title_sort novel n440k sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of clcn1 exon deletion/duplication by mlpa
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235863/
https://www.ncbi.nlm.nih.gov/pubmed/22106717
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