Title: Charcot-Marie-Tooth disease: a clinico-genetic confrontation
Authors: Barisic, N ×
Claeys, Kristl
Sirotković-Skerlev, M
Löfgren, A
Nelis, Eline
De Jonghe, P
Timmerman, V #
Issue Date: May-2008
Publisher: Published for the Galton Laboratory by Cambridge University Press
Series Title: Annals of Human Genetics vol:72 issue:Pt 3 pages:416-441
Article number: 10.1111/j.1469-1809.2007.00412.x
Abstract: Charcot-Marie-Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous inherited neuropathies. Here, we review the results of molecular genetic investigations and the clinical and neurophysiological features of the different CMT subtypes. The products of genes associated with CMT phenotypes are important for the neuronal structure maintenance, axonal transport, nerve signal transduction and functions related to the cellular integrity. Identifying the molecular basis of CMT and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, and the processes involved in the normal development and function of the peripheral nervous system. The results of molecular genetic investigations have impact on the appropriate diagnosis, genetic counselling and possible new therapeutic options for CMT patients.
ISSN: 0003-4800
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
Centre for Student Support and Learning Development, Faculty of Economics and Business (-)
× corresponding author
# (joint) last author

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