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

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:410

Letter

Efthymiou, Stephanie^1,2  Kriouile, Yamna⁴  Salpietro, Vincenzo¹  Hajar, Rhouda⁴  Ghizlane, Zouiri⁴  Mankad, Kshitij³  El Khorassani, Mohamed⁴  Aguennouz, Mhammed⁵  Houlden, Henry¹  Wiethoff, Sarah^1,6,7 

[1] UCL Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London WC1N 3BG, England

[2] UCL Inst Neurol, Dept Clin & Expt Epilepsy, Queen Sq, London WC1N 3BG, England

[3] Great Ormond St Hosp Sick Children, Dept Neuroradiol, London WC1N 3JH, England

[4] Rabat Childrens Hosp, Pediat Dept 2, Unit Neuropediat & Neurometab, Rabat, Morocco

[5] Univ Messina, Dept Clin & Expt Med, Sicily, Italy

[6] Eberhard Karls Univ Tubingen, Ctr Neurol, Tubingen, Germany

[7] Eberhard Karls Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany

关键词: Brain iron accumulation;    Neurodegeneration;    PANK2;    NBIA;    North Africa;   

DOI  :  10.1016/j.jns.2019.116639

来源: Elsevier

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