Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-26T19:09:04.915Z Has data issue: false hasContentIssue false

A Novel Exon 3 Mutation (P66S) in the SOD1 Gene in Familial ALS

Published online by Cambridge University Press:  02 December 2014

Wonki Baek
Affiliation:
Department of Neurology, Hanyang University College of Medicine
Seong-Ho Koh
Affiliation:
Department of Neurology, Hanyang University College of Medicine
Young Seo Kim
Affiliation:
Department of Neurology, Hanyang University College of Medicine
Hyun Young Kim
Affiliation:
Department of Neurology, Hanyang University College of Medicine
Min-Jung Kwon
Affiliation:
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine
Chang-Seok Ki
Affiliation:
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Hanyang University Hospital, Seoul, South Korea
Seung Hyun Kim*
Affiliation:
Department of Neurology, Hanyang University College of Medicine
*
Department of Neurology, Hanyang University Hospital, 17 Haengdang-dong, Seongdong-gu, Seoul 133-792, South Korea.
Rights & Permissions [Opens in a new window]

Abstract

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Brief Communications
Copyright
Copyright © The Canadian Journal of Neurological 2012

References

1Rosen, DR.Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;364:362.CrossRefGoogle ScholarPubMed
2Segovia-Silvestre, T, Andreu, AL, Vives-Bauza, C, Garcia-Arumi, E, Cervera, C, Gamez, J.A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002;3:6974.CrossRefGoogle ScholarPubMed
3Giess, R, Holtmann, B, Braga, M, et al.Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet. 2002;70:127786.CrossRefGoogle ScholarPubMed
4del Grande, ALuigetti, MConte, A, et al.A novel L67P SOD1 mutation in an Italian ALS patient. Amyotroph Lateral Scler. 2011;12:1502.CrossRefGoogle Scholar
5Radunovic, A, Leigh, PN.Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry. 1996;61:56572.CrossRefGoogle ScholarPubMed