RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). Here we report two patients, compound heterozygous for RARS2 mutations, presenting with early onset epileptic encephalopathy and (progressive) atrophy of both supra- and...

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Udgivet i:JIMD Rep
Main Authors: van Dijk, Tessa, van Ruissen, Fred, Jaeger, Bregje, Rodenburg, Richard J., Tamminga, Saskia, van Maarle, Merel, Baas, Frank, Wolf, Nicole I., Poll-The, Bwee Tien
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413457/
https://ncbi.nlm.nih.gov/pubmed/27683254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_584
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