Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up

Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient’s clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing pheno...

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Autores principales: Schinwelski, M., Kierdaszuk, B., Dulski, J., Tońska, K., Kodroń, A., Sitek, E. J., Bartnik, E., Kamińska, A., Kwieciński, H., Sławek, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491363/
https://www.ncbi.nlm.nih.gov/pubmed/25550170
http://dx.doi.org/10.1007/s11011-014-9645-x
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author Schinwelski, M.
Kierdaszuk, B.
Dulski, J.
Tońska, K.
Kodroń, A.
Sitek, E. J.
Bartnik, E.
Kamińska, A.
Kwieciński, H.
Sławek, J.
author_facet Schinwelski, M.
Kierdaszuk, B.
Dulski, J.
Tońska, K.
Kodroń, A.
Sitek, E. J.
Bartnik, E.
Kamińska, A.
Kwieciński, H.
Sławek, J.
author_sort Schinwelski, M.
collection PubMed
description Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient’s clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11011-014-9645-x) contains supplementary material, which is available to authorized users.
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spelling pubmed-44913632015-07-08 Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up Schinwelski, M. Kierdaszuk, B. Dulski, J. Tońska, K. Kodroń, A. Sitek, E. J. Bartnik, E. Kamińska, A. Kwieciński, H. Sławek, J. Metab Brain Dis Short Communication Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient’s clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11011-014-9645-x) contains supplementary material, which is available to authorized users. Springer US 2014-12-31 2015 /pmc/articles/PMC4491363/ /pubmed/25550170 http://dx.doi.org/10.1007/s11011-014-9645-x Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/4.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Short Communication
Schinwelski, M.
Kierdaszuk, B.
Dulski, J.
Tońska, K.
Kodroń, A.
Sitek, E. J.
Bartnik, E.
Kamińska, A.
Kwieciński, H.
Sławek, J.
Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up
title Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up
title_full Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up
title_fullStr Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up
title_full_unstemmed Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up
title_short Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up
title_sort changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042g>a de novo mutation—a 5 year follow up
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491363/
https://www.ncbi.nlm.nih.gov/pubmed/25550170
http://dx.doi.org/10.1007/s11011-014-9645-x
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