Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

Details

Serval ID
serval:BIB_4FCDAA6BD637
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Journal
Molecular Syndromology
Author(s)
Azzedine H., Senderek J., Rivolta C., Chrast R.
ISSN
1661-8769 (Print)
ISSN-L
1661-8769
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
3
Number
5
Pages
204-214
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
Abstract
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders of the peripheral nervous system, mainly characterized by distal muscle weakness and atrophy leading to motor handicap. With an estimated prevalence of 1 in 2,500, this condition is one of the most commonly inherited neurological disorders. Mutations in more than 30 genes affecting glial and/or neuronal functions have been associated with different forms of CMT leading to a substantial improvement in diagnostics of the disease and in the understanding of implicated pathophysiological mechanisms. However, recent data from systematic genetic screening performed in large cohorts of CMT patients indicated that molecular diagnosis could be established only in ∼50-70% of them, suggesting that additional genes are involved in this disease. In addition to providing an overview of genetic and functional data concerning various CMT forms, this review focuses on recent data generated through the use of highly parallel genetic technologies (SNP chips, sequence capture and next-generation DNA sequencing) in CMT families, and the current and future impact of these technologies on gene discovery and diagnostics of CMTs.
Pubmed
Open Access
Yes
Create date
15/02/2015 20:31
Last modification date
20/08/2019 14:05
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