Murphy, SM; Laura, M; Fawcett, K; Pandraud, A; Liu, YT; Davidson, GL; ... Reilly, MM; + view all Murphy, SM; Laura, M; Fawcett, K; Pandraud, A; Liu, YT; Davidson, GL; Rossor, AM; Polke, JM; Castleman, V; Manji, H; Lunn, MP; Bull, K; Ramdharry, G; Davis, M; Blake, JC; Houlden, H; Reilly, MM; - view fewer (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.|
|Additional information:||PMCID: PMC3736805|
|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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