Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?
Author:
Publisher
Informa UK Limited
Subject
General Biochemistry, Genetics and Molecular Biology,Animal Science and Zoology
Link
http://www.tandfonline.com/doi/pdf/10.1080/19768354.2013.814587
Reference31 articles.
1. A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs
2. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation
3. Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations
4. Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity
5. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study
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