The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene

m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail t...

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Autores principales: Keilland, E., Rupar, C.A., Prasad, Asuri N., Tay, K.Y., Downie, A., Prasad, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789386/
https://www.ncbi.nlm.nih.gov/pubmed/27014580
http://dx.doi.org/10.1016/j.ymgmr.2016.02.003
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author Keilland, E.
Rupar, C.A.
Prasad, Asuri N.
Tay, K.Y.
Downie, A.
Prasad, C.
author_facet Keilland, E.
Rupar, C.A.
Prasad, Asuri N.
Tay, K.Y.
Downie, A.
Prasad, C.
author_sort Keilland, E.
collection PubMed
description m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia).
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spelling pubmed-47893862016-03-24 The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene Keilland, E. Rupar, C.A. Prasad, Asuri N. Tay, K.Y. Downie, A. Prasad, C. Mol Genet Metab Rep Case Report m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia). Elsevier 2016-02-22 /pmc/articles/PMC4789386/ /pubmed/27014580 http://dx.doi.org/10.1016/j.ymgmr.2016.02.003 Text en Copyright © 2016 Published by Elsevier Inc. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Keilland, E.
Rupar, C.A.
Prasad, Asuri N.
Tay, K.Y.
Downie, A.
Prasad, C.
The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
title The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
title_full The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
title_fullStr The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
title_full_unstemmed The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
title_short The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
title_sort expanding phenotype of melas caused by the m.3291t > c mutation in the mt-tl1 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789386/
https://www.ncbi.nlm.nih.gov/pubmed/27014580
http://dx.doi.org/10.1016/j.ymgmr.2016.02.003
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