Hdl Handle:
http://hdl.handle.net/10147/254552
Title:
Charcot-Marie-Tooth disease.
Authors:
Reilly, Mary M; Murphy, Sinéad M; Laurá, Matilde
Affiliation:
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
Citation:
Charcot-Marie-Tooth disease. 2011, 16 (1):1-14 J. Peripher. Nerv. Syst.
Publisher:
Journal of the peripheral nervous system : JPNS
Journal:
Journal of the peripheral nervous system : JPNS
Issue Date:
Mar-2011
URI:
http://hdl.handle.net/10147/254552
DOI:
10.1111/j.1529-8027.2011.00324.x
PubMed ID:
21504497
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.
Item Type:
Article
Language:
en
MeSH:
Charcot-Marie-Tooth Disease; Humans
ISSN:
1529-8027

Full metadata record

DC FieldValue Language
dc.contributor.authorReilly, Mary Men_GB
dc.contributor.authorMurphy, Sinéad Men_GB
dc.contributor.authorLaurá, Matildeen_GB
dc.date.accessioned2012-12-05T10:13:20Z-
dc.date.available2012-12-05T10:13:20Z-
dc.date.issued2011-03-
dc.identifier.citationCharcot-Marie-Tooth disease. 2011, 16 (1):1-14 J. Peripher. Nerv. Syst.en_GB
dc.identifier.issn1529-8027-
dc.identifier.pmid21504497-
dc.identifier.doi10.1111/j.1529-8027.2011.00324.x-
dc.identifier.urihttp://hdl.handle.net/10147/254552-
dc.description.abstractCharcot-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.en_GB
dc.language.isoenen
dc.publisherJournal of the peripheral nervous system : JPNSen_GB
dc.rightsArchived with thanks to Journal of the peripheral nervous system : JPNSen_GB
dc.subject.meshCharcot-Marie-Tooth Disease-
dc.subject.meshHumans-
dc.titleCharcot-Marie-Tooth disease.en_GB
dc.typeArticleen
dc.contributor.departmentMRC 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.uken_GB
dc.identifier.journalJournal of the peripheral nervous system : JPNSen_GB
dc.description.provinceLeinsteren

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