Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie

Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease

Published:2014-05-13 Issue:3 Volume:16 Page:540-550
ISSN:1535-1084
Container-title:NeuroMolecular Medicine
language:en
Short-container-title:Neuromol Med

Author:

Bergamin Giorgia,Boaretto Francesca,Briani Chiara,Pegoraro Elena,Cacciavillani Mario,Martinuzzi Andrea,Muglia Maria,Vettori Andrea,Vazza Giovanni,Mostacciuolo Maria Luisa

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12017-014-8307-9.pdf

Reference42 articles.

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2. Benedetti, S., Previtali, S. C., Coviello, S., Scarlato, M., Cerri, F., Di Pierri, E., et al. (2010). Analyzing histopathological features of rare Charcot–Marie–Tooth neuropathies to unravel their pathogenesis. Archives of Neurology, 67(12), 1498–1505.

3. Bergamin, G., Dalla Torre, C., Cacciavillani, M., Lucchetta, M., Boaretto, F., Campagnolo, M., et al. (2014). Novel mutation of the mitofusin 2 gene in a family with Charcot–Marie–Tooth disease type 2. Muscle and Nerve, 49(1), 145–146.

4. Boaretto, F., Vettori, A., Casarin, A., Vazza, G., Muglia, M., Rossetto, M. G., et al. (2010). Severe CMT type 2 with fatal encephalopathy associated with a novel Mfn2 splicing mutation. Neurology, 74(23), 1919–1921.

5. Braathen, G. J. (2012). Genetic epidemiology of Charcot–Marie–Tooth disease. Acta Neurologica Scandinavica, 126(s193), iv–22.

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