Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

Detalles Bibliográficos
Autores principales: Sloth, Christine K., Denti, Federico, Schmitt, Nicole, Bentzen, Bo Hjorth, Fagerberg, Christina, Vissing, John, Gaist, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Clinical/Scientific Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167177/
https://www.ncbi.nlm.nih.gov/pubmed/30283817
http://dx.doi.org/10.1212/NXG.0000000000000267
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author Sloth, Christine K.
Denti, Federico
Schmitt, Nicole
Bentzen, Bo Hjorth
Fagerberg, Christina
Vissing, John
Gaist, David
author_facet Sloth, Christine K.
Denti, Federico
Schmitt, Nicole
Bentzen, Bo Hjorth
Fagerberg, Christina
Vissing, John
Gaist, David
author_sort Sloth, Christine K.
collection PubMed
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spelling pubmed-61671772018-10-03 Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression Sloth, Christine K. Denti, Federico Schmitt, Nicole Bentzen, Bo Hjorth Fagerberg, Christina Vissing, John Gaist, David Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2018-09-19 /pmc/articles/PMC6167177/ /pubmed/30283817 http://dx.doi.org/10.1212/NXG.0000000000000267 Text en Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Clinical/Scientific Notes
Sloth, Christine K.
Denti, Federico
Schmitt, Nicole
Bentzen, Bo Hjorth
Fagerberg, Christina
Vissing, John
Gaist, David
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
title Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
title_full Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
title_fullStr Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
title_full_unstemmed Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
title_short Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
title_sort homozygosity for scn4a arg1142gln causes congenital myopathy with variable disease expression
topic Clinical/Scientific Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167177/
https://www.ncbi.nlm.nih.gov/pubmed/30283817
http://dx.doi.org/10.1212/NXG.0000000000000267
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