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Phenotypic and genotypic variability in Alpers syndrome.

Journal article
Authors Kalliopi Sofou
Ali-Reza Moslemi
Gittan Kollberg
Ingibjörg Bjarnadottir
Anders Oldfors
Inger Nennesmo
Elisabeth Holme
Mar Tulinius
Niklas Darin
Published in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Volume 16
Issue 4
Pages 379-89
ISSN 1532-2130
Publication year 2012
Published at Institute of Biomedicine, Department of Pathology
Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Clinical Sciences, Department of Pediatrics
Pages 379-89
Language en
Links dx.doi.org/10.1016/j.ejpn.2011.12.0...
Subject categories Neurology, Pediatrics

Abstract

Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1.

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