Publication

Charcot-Marie-Tooth disease.

Reilly, Mary M
; 
Murphy, Sinéad M
; 
Laurá, Matilde
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Author
Reilly, Mary M
 Murphy, Sinéad M
 Laurá, Matilde
Advisors
Editors
Other Contributors
Departments
MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK. m.reilly@ion.ucl.ac.uk
Date
2011-03
Date Submitted
Keywords
Other Subjects
Subject Mesh
Charcot-Marie-Tooth Disease
Humans
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
Journal of the peripheral nervous system : JPNS
URI
https://hdl.handle.net/10147/254552
Abstract
Charcot-Marie-Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described. This has made obtaining an accurate genetic diagnosis possible but at times challenging for clinicians. This review aims to provide a simple, pragmatic approach to diagnosing CMT from a clinician's perspective.
Language
en
Citation
Charcot-Marie-Tooth disease. 2011, 16 (1):1-14 J. Peripher. Nerv. Syst.
ISSN
1529-8027
eISSN
ISBN
DOI
10.1111/j.1529-8027.2011.00324.x
PMID
21504497
PMCID
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