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Charcot-Marie-Tooth Disease Type 2-Like Phenotype due to a Novel Variant in the Stalk Domain of KIF5A .

Autor: Liouta E; First Department of Neurology, Aristotle University of Thessaloniki, AHEPA University Hospital, Stilponos Kyriakidi 1, Thessaloniki, Greece., Poulidou V; First Department of Neurology, Aristotle University of Thessaloniki, AHEPA University Hospital, Stilponos Kyriakidi 1, Thessaloniki, Greece., Frontistis A; First Department of Neurology, Aristotle University of Thessaloniki, AHEPA University Hospital, Stilponos Kyriakidi 1, Thessaloniki, Greece., Moschou M; First Department of Neurology, Aristotle University of Thessaloniki, AHEPA University Hospital, Stilponos Kyriakidi 1, Thessaloniki, Greece., Fidani S; AHEPA Hospital and Department of Biology and Medical Genetics, Medical School, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, Thessaloniki, Greece., Papoulidis I; Third Department of Obstetrics and Gynaecology, Department of Medicine, Aristotle University of Thessaloniki, Konstantinoupoleos 49; Access to Genome - ATG, P.C., Ethnikis Antistaseos 33A, Thessaloniki, Greece., Spilioti M; First Department of Neurology, Aristotle University of Thessaloniki, AHEPA University Hospital, Stilponos Kyriakidi 1, Thessaloniki, Greece., Kimiskidis VK; First Department of Neurology, Aristotle University of Thessaloniki, AHEPA University Hospital, Stilponos Kyriakidi 1, Thessaloniki, Greece., Arnaoutoglou M; First Department of Neurology, Aristotle University of Thessaloniki, AHEPA University Hospital; Laboratory of Clinical Neurophysiology, School of Medicine, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, Thessaloniki, Greece.

Publikováno v: Neurology India [Neurol India] 2023 May-Jun; Vol. 71 (3), pp. 577-579.