Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family-Reference-Cited by-同舟云学术

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Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot–Marie–Tooth disease family

Published:2005-06-10 Issue:3 Volume:6 Page:159-163
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Chung K. W.,Sunwoo I. N.,Kim S. M.,Park K. D.,Kim W.-K.,Kim T. S.,Koo H.,Cho M.,Lee J.,Choi B. O.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-005-0217-4.pdf

Reference17 articles.

1. Harding AE (1995) From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain 118:809–818

2. Suter U, Scherer SS (2003) Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 4:714–726

3. Shy ME, Garbern JY, Kamholz J (2002) Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol 1:110–118

4. Nicholson SM, Gomes D, de Nechaud B, Bruzzone R (2001) Altered gene expression in Schwann cells of connexin32 knockout animals. J Neurosci Res 66:23–36

5. Evans WH, Martin PE (2002) Gap junctions: structure and function. Mol Membr Biol 19:121–136

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