Article
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis.
Autonomic neuroscience : basic & clinical - 25 Sept 2012
Bostan Alionka, Glibert Gerald, Dachy Bernard, Dan Bernard
Abstract excerpt
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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