MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
Author:
Affiliation:
1. Department of Neurology, University of Yamanashi, Japan
2. Department of Pediatrics, University of Yamanashi, Japan
3. Department of Ophthalmology, University of Yamanashi, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/60/24/60_7463-21/_pdf
Reference16 articles.
1. 1. Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129: 2103-2118, 2006.
2. 2. Züchner S, Vance JM. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neuromolecular Med 8: 63-74, 2006.
3. 3. Stuppia G, Rizzo F, Riboldi G, et al. MFN2-related neuropathies: clinical features, molecular pathogenesis and therapeutic perspectives. J Neurol Sci 356: 7-18, 2015.
4. 4. Feely SM, Laura M, Siskind CE, et al. MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology 76: 1690-1696, 2011.
5. 5. Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 65: 197-204, 2005.
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