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A Novel PANK2 Gene Mutation with Sudden-Onset Dystonia

Published online by Cambridge University Press:  02 December 2014

JiSun Kim
Affiliation:
Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea
Hyeeun Shin
Affiliation:
Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea
Jinyoung Youn
Affiliation:
Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea
Chang-Seok Ki
Affiliation:
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Ah Ra Cho
Affiliation:
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Jin Whan Cho*
Affiliation:
Department of Neurology, Sungkyunkwan University School of Medicine, Seoul, Korea
*
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50, Irwon-Dong, Gangnam-Gu Seoul 135-710, Korea. Email: jinwhan.cho@samsung.com
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Abstract

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Type
Brief Communications
Copyright
Copyright © The Canadian Journal of Neurological 2012

References

1Thomas, M, Hayflick, SJ, Jankovic, J.Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord. 2004;19(1):3642.CrossRefGoogle ScholarPubMed
2Hayflick, SJ, Westaway, SK, Levinson, B, et al.Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348(1):3340.CrossRefGoogle ScholarPubMed
3Antonini, A, Goldwurm, S, Benti, R, et al.Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration. Mov Disord. 2006;21(3):4178.CrossRefGoogle Scholar
4Chung, SJ, Lee, JH, Lee, MC, Yoo, H-W, Kim, G-H.Focal hand dystonia in a patient with PANK2 mutation. Mov Disord. 2008;23(3):4668.CrossRefGoogle Scholar
5Wu, YR, Chen, CM, Chao, CY, Lyu, RK, Lee-Chen, G-J.Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: Identification of a novel PANK2gene mutation. Mov Disord. 2009;24(6):9401.CrossRefGoogle ScholarPubMed
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