Literature DB >> 10586233

A clinical review of Charcot-Marie-Tooth.

C A Garcia1.   

Abstract

CMT polyneuropathy is a complex genetically and clinically heterogeneous group of disorders. The rapid advances in our understanding of the molecular basis of these groups of neuropathies have helped to resolve some of the controversial issues regarding the clinical and genetic classification. However, there is still confusion and chaos in the terminology employed by different groups of researchers. A reclassification based on the molecular mechanisms of these neuropathies will help in the future to unify and simplify the diagnosis of these complex disorders. The understanding of the molecular mechanisms will also help in the future to find a way to control or treat these hereditary neuropathies.

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Year:  1999        PMID: 10586233

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN: 0077-8923            Impact factor:   5.691


  3 in total

Review 1.  Gap junctions in inherited human disease.

Authors:  Georg Zoidl; Rolf Dermietzel
Journal:  Pflugers Arch       Date:  2010-02-07       Impact factor: 3.657

2.  Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counseling.

Authors:  Angela Arnold; Meriel McEntagart; David S Younger
Journal:  J Genet Couns       Date:  2005-08       Impact factor: 2.537

3.  Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

Authors:  Annachiara De Sandre-Giovannoli; Malika Chaouch; Serguei Kozlov; Jean-Michel Vallat; Meriem Tazir; Nadia Kassouri; Pierre Szepetowski; Tarik Hammadouche; Antoon Vandenberghe; Colin L Stewart; Djamel Grid; Nicolas Lévy
Journal:  Am J Hum Genet       Date:  2002-01-17       Impact factor: 11.025

  3 in total

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