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Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
Akçakaya, Nihan Hande; Uğur İşeri, Sibel; Bilir, Birdal; Battaloğlu, Esra; Tektürk, Pınar; Gültekin, Murat; Yapıcı, Zuhal; Alp, Recep (Elsevier Science Bv, 2017)Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI ...