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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Detalles Bibliográficos
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
Descripción
Sumario: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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