A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.

Stephanie Efthymiou, Yamna Kriouile, Vincenzo Salpietro, Rhouda Hajar, Zouiri Ghizlane, Kshitij Mankad, Mohamed El Khorassani, Mhammed Aguennouz, Henry Houlden, Sarah Wiethoff

Journal: Journal of the neurological sciences 2021;410():116639

PMID: 31884352

Abstract

Address: Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, Morocco.; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Department of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; Department of Clinical and Experimental Medicine, University of Messina, Sicily, Italy.; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany. Electronic address: [email protected].
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