Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
AuthorsMurphy, Sinead M
Davidson, Gabrielle L
Rossor, Alexander M
Polke, James M
Lunn, Michael P T
Blake, Julian C
Reilly, Mary M
AffiliationMRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Genetic Predisposition to Disease
Practice Guidelines as Topic
MetadataShow full item record
CitationCharcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. 2012, 83 (7):706-10 J. Neurol. Neurosurg. Psychiatr.
JournalJournal of neurology, neurosurgery, and psychiatry
AbstractCharcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice.
- Genetic epidemiology of Charcot-Marie-Tooth disease.
- Authors: Braathen GJ
- Issue date: 2012
- Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
- Authors: Bergamin G, Boaretto F, Briani C, Pegoraro E, Cacciavillani M, Martinuzzi A, Muglia M, Vettori A, Vazza G, Mostacciuolo ML
- Issue date: 2014 Sep
- Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.
- Authors: Gess B, Schirmacher A, Boentert M, Young P
- Issue date: 2013 Aug
- Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
- Authors: Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø
- Issue date: 2013 Sep 21
- Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
- Authors: Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K
- Issue date: 2016 Jan