Article
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Archives of disease in childhood - 1 Dec 2013
Kastrissianakis Katherina, Anand Geetha, Quaghebeur Gerardine, Price Sue, Prabhakar Prab, Marinova Jasmina, Brown Garry, McShane Tony
Abstract excerpt
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who...
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