Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). We describe 2 sisters with novel compound heterozygous RARS2 mutations who presented perinatally with neurologi...

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Bibliografiske detaljer
Udgivet i:J Neuropathol Exp Neurol
Main Authors: Lax, Nichola Z., Alston, Charlotte L., Schon, Katherine, Park, Soo-Mi, Krishnakumar, Deepa, He, Langping, Falkous, Gavin, Ogilvy-Stuart, Amanda, Lees, Christoph, King, Rosalind H., Hargreaves, Iain P., Brown, Garry K., McFarland, Robert, Dean, Andrew F., Taylor, Robert W.
Format: Artigo
Sprog:Inglês
Udgivet: American Association of Neuropathologists 2015
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470523/
https://ncbi.nlm.nih.gov/pubmed/26083569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0000000000000209
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