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Novel PANK2 gene mutations in Korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor

✍ Scribed by Won Tae Yoon; Won Yong Lee; Hee-Young Shin; Seung-Tae Lee; Chang-Seok Ki


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
287 KB
Volume
25
Category
Article
ISSN
0885-3185

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## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete