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

par Bostan, Alionka ;Glibert, Gerald ;Dachy, Bernard ;Dan, Bernard
Référence Autonomic neuroscience: basic & clinical, 170, 1-2, page (70-72)
Publication Publié, 2012-09

Article révisé par les pairs

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Résumé :

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.