Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
Author:
Funder
University of Cambridge
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10048-016-0504-2.pdf
Reference21 articles.
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3. Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C et al (2006) MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-tooth type 2. Brain J Neurol 129(Pt 8):2093–2102
4. Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K et al (2014) Charcot-Marie-tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol 71(8):1036–1042
5. Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F et al (2008) Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 70(19):1678–1681
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