A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline

Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnos...

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Detalles Bibliográficos
Autores principales: Taylor, D., Haynes, H. R., Graham, A., Gerhand, S., Kurian, K. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639671/
https://www.ncbi.nlm.nih.gov/pubmed/23662223
http://dx.doi.org/10.1155/2013/125672
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author Taylor, D.
Haynes, H. R.
Graham, A.
Gerhand, S.
Kurian, K. M.
author_facet Taylor, D.
Haynes, H. R.
Graham, A.
Gerhand, S.
Kurian, K. M.
author_sort Taylor, D.
collection PubMed
description Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.
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spelling pubmed-36396712013-05-09 A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline Taylor, D. Haynes, H. R. Graham, A. Gerhand, S. Kurian, K. M. Case Rep Neurol Med Case Report Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies. Hindawi Publishing Corporation 2013 2013-04-11 /pmc/articles/PMC3639671/ /pubmed/23662223 http://dx.doi.org/10.1155/2013/125672 Text en Copyright © 2013 D. Taylor et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Taylor, D.
Haynes, H. R.
Graham, A.
Gerhand, S.
Kurian, K. M.
A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
title A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
title_full A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
title_fullStr A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
title_full_unstemmed A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
title_short A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
title_sort 29-year-old female with progressive myoclonus and cognitive decline
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639671/
https://www.ncbi.nlm.nih.gov/pubmed/23662223
http://dx.doi.org/10.1155/2013/125672
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