Article
Phenotypic and genotypic variability in Alpers syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2012
Sofou Kalliopi, Moslemi Ali-Reza, Kollberg Gittan, Bjarnadóttir Ingibjörg, Oldfors Anders, Nennesmo Inger, Holme Elisabeth, Tulinius Már, Darin Niklas
Abstract excerpt
BACKGROUND: Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1. AIMS: To investigate the phenotypic-genotypic correlations in Alpers syndrome and to identify potential differences among patients with Alpers syndrome with or without pathogenic POLG1 mutations. METHODS: Patients with the phenotype of Alpers...
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