Bone and Joint Institute

Title

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

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).

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