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.
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Published online: July 17, 2012
Accepted: June 17, 2012
Received in revised form: June 15, 2012
Received: November 17, 2011
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.