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Auton Neurosci. 2012 Sep 25;170(1-2):70-2. doi: 10.1016/j.autneu.2012.06.002. Epub 2012 Jul 16.

Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis.

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  • 1Department of Neurology, CHU Brugmann, Universite Libre de Bruxelles, Brussels, Belgium.


Clinical expression of POLG mutations is largely variable. We present a patient with a new mutation in spacer region of mitochondrial polymerase gamma protein (P765T). The clinical picture is characterized by the presence of sensory-ataxic neuropathy, ophthalmoplegia, dysarthria and gastroparesis, which had not been previously observed in ataxia neuropathy spectrum.

Copyright © 2012 Elsevier B.V. All rights reserved.

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