Murphy, SM and Laura, M and Fawcett, K and Pandraud, A and Liu, YT and Davidson, GL and Rossor, AM and Polke, JM and Castleman, V and Manji, H and Lunn, MP and Bull, K and Ramdharry, G and Davis, M and Blake, JC and Houlden, H and Reilly, MM (2012) Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry , 83 (7) 706 - 710. 10.1136/jnnp-2012-302451.
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Charcot-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.
|Title:||Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.|
|Keywords:||Charcot-Marie-Tooth Disease, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Mutation, Practice Guidelines as Topic|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
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