Article
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2007
Meulemans Ann, Seneca Sara, Smet Joel, De Paepe Boel, Lissens Willy, Van Coster Rudy, Debeer Anne, De Meirleir Linda, Jaeken Jaak
Abstract excerpt
BACKGROUND: In the heterogeneous group of mitochondrial disorders, patients with the same genotype can show different phenotypes and the same phenotype can be caused by different genotypes. We describe a family with the m.14709T>C mutation and a clinical presentation of hydrops fetalis, in contrast to previous reports in which patients presented with myopathy and/or diabetes mellitus. AIM: To identify a mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.