A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A-Reference-Cited by-同舟云学术

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A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A

Published:2012-04-20 Issue:3 Volume:13 Page:275-280
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Park Su-Yeon,Kim So Yeon,Hong Yoon-Ho,Cho Sung Im,Seong Moon-Woo,Park Sung Sup

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-012-0327-8.pdf

Reference14 articles.

1. Pareyson D, Marchesi C (2009) Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. Lancet Neurol 8:654–667. doi: 10.1016/S1474-4422(09)70110-3

2. Zuchner S, Mersiyanova IV, Muglia M et al (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A. Nat Genet 36:449–451. doi: 10.1038/ng1341

3. Verhoeven K, Claeys KG, Zuchner S et al (2006) MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2. Brain 129:2093–2102. doi: 10.1093/brain/awl126

4. Chung KW, Kim SB, Park KD et al (2006) Early onset severe and late-onset mild Charcot–Marie–Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129:2103–2118. doi: 10.1093/brain/awl174

5. Calvo J, Funalot B, Ouvrier RA et al (2009) Genotype–phenotype correlations in Charcot–Marie–Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol 66:1511–1516

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