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Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without ‘eye-of-the-tiger’ sign on MRI in a pair of siblings

✍ Scribed by Zarazuela Zolkipli; Hisham Dahmoush; Dawn E. Saunders; W. K. Kling Chong; Robert Surtees


Publisher
Springer-Verlag
Year
2006
Tongue
English
Weight
172 KB
Volume
36
Category
Article
ISSN
0301-0449

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## Abstract We performed a detailed molecular study in two unrelated families with pantothenate kinase–associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye‐of‐the‐tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers fr