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
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.