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

Authors

E. Keilland, London Health Sciences Centre
C. A. Rupar, London Health Sciences Centre
Asuri N. Prasad, London Health Sciences Centre
K. Y. Tay, London Health Sciences Centre
A. Downie, Western University
C. Prasad, London Health Sciences Centre

Document Type

Article

Publication Date

3-1-2016

Journal

Molecular Genetics and Metabolism Reports

Volume

6

First Page

64

Last Page

69

URL with Digital Object Identifier

10.1016/j.ymgmr.2016.02.003

Abstract

Crown Copyright © 2016 Published by Elsevier Inc. 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).

Notes

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)

Article has been published at:

Keilland, E., Rupar, C. A., Prasad, A. N., Tay, K. Y., Downie, A., & Prasad C. (2016). The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene. Molecular Genetics and Metabolism Reports, 6, 64–69. DOI: http://dx.doi.org/10.1016/j.ymgmr.2016.02.003

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