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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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. |
| Location: | England |
| DOI: | 10.1136/jnnp-2012-302451 |
| Language: | English |
| 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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