Mutations in the LMNA gene do not cause axonal CMT in Czech patients-Reference-Cited by-同舟云学术

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Mutations in the LMNA gene do not cause axonal CMT in Czech patients

Published:2009-05-08 Issue:6 Volume:54 Page:365-368
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Laššuthová Petra,Baránková Lucia,Haberlová Jana,Mazanec Radim,Wallace Andrew,Huehne Kathrin,Rautenstrauss Bernd,Seeman Pavel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200943.pdf

Reference22 articles.

1. Dyck, P. J. & Lambert, E. H. Lower motor and sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch. Neurol. 18, 603–618 (1968).

2. Harding, A. E. & Thomas, P. K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 103, 259–280 (1980).

3. Reilly, M. M. Classification of the hereditary motor and sensory neuropathies. Curr. Opin. Neurol. 13, 561–564 (2000).

4. Gemignani, F. & Marbini, A. Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. J. Neurol. Sci. 184, 1–9 (2001).

5. Jonghe, P. D., Timmerman, V. & Broeckhoven, C. V. 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2– HMSN II) and Distal Hereditary Motor Neuropathy (Distal HMN–Spinal CMT), September 26–28, 1997, Naarden, The Netherlands. Neuromuscul. Disord. 8, 426–431 (1998).

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1. Defective axonal transport: A common pathological mechanism in inherited and acquired peripheral neuropathies;Neurobiology of Disease;2017-09

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