The expanding phenotype of MELAS caused by the m.3291T \u3e C mutation in the MT-TL1 gene

Crown Copyright © 2016 Published by Elsevier Inc. m.3291T \u3e 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 (\u3e 7 years) and management in a Caucasian family with MELAS due to the m.3291T \u3e C mutation and review the literature on m.3291T \u3e 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)

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 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)

Using political metaphors to understand educational policy in developing countries: the case of Ghana and informal communities

This article suggests that one needs to consider education as inherently political to better understand some of the problems in education policy in developing countries. It suggests that using political metaphors as a discursive framework can enhance the understanding of some of the limitations of formal schooling in developing countries. Political metaphors can be an alternative approach to the predominant market metaphors in educationpolicy and can provide valuable insights for future research and policy that go beyond current approaches. By using Ghana as an example, this article focuses on the implications that strong informal communities and markets can have for formal schooling in developing countries