Article
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Journal of neuropathology and experimental neurology - 1 Jul 2015
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
Abstract excerpt
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 neurologic features typical of PCH6 but with additional features including cardiomyopathy, hydrops, and pulmonary hypoplasia...
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