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

Department of Neurology, CHU Brugmann, Universite Libre de Bruxelles, Brussels, Belgium.
Autonomic neuroscience: basic & clinical (Impact Factor: 1.56). 07/2012; 170(1-2):70-2. DOI: 10.1016/j.autneu.2012.06.002
Source: PubMed


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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