Connexin32 and X-Linked-Charcot-Marie-Tooth Disease

Author:

Deschênes Suzanne M.,Bone Linda Jo,Fischbeck Kenneth H.,Scherer Steven S.

Publisher

Springer Berlin Heidelberg

Reference99 articles.

1. Bergoffen J, Scherer SS, Wang S et al. Connexin mutations in X-linked CharcotMarie-Tooth disease. Science 1993a; 262: 2039–2042.

2. Charcot J-M, Marie P. Sur une forme particulière d’atrophie musculaire progressive souvent familial débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886; 6: 97–138.

3. Tooth HH. The Peroneal Type of Progressive Muscular Atrophy. London, H.K. Lewis and Co., Ltd., 1886.

4. Skre, H. Genetic and clinical aspects of Charcot-Marie-Tooth’s disease. Clin Genet 1974; 6: 98–118.

5. Matsunami N, Smith B, Ballard L, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosomel7p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1992; 1: 176–179.

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1. Biological Functions of Connexin Genes Revealed by Human Genetic Defects, Dominant Negative Approaches and Targeted Deletions in the Mouse;Novartis Foundation Symposium 219 - Gap Junction-Mediated Intercellular Signalling in Health and Disease;2007-09-28

2. Molecular Physiology of Gap Junction Channels Formed by Connexin43;From Ion Channels to Cell-to-Cell Conversations;1997

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