Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Authors
Murphy, Sinead MLaura, Matilde
Fawcett, Katherine
Pandraud, Amelie
Liu, Yo-Tsen
Davidson, Gabrielle L
Rossor, Alexander M
Polke, James M
Castleman, Victoria
Manji, Hadi
Lunn, Michael P T
Bull, Karen
Ramdharry, Gita
Davis, Mary
Blake, Julian C
Houlden, Henry
Reilly, Mary M
Affiliation
MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.Issue Date
2012-07MeSH
Charcot-Marie-Tooth DiseaseCohort Studies
Female
Gene Frequency
Genetic Predisposition to Disease
Genetic Testing
Humans
Male
Mutation
Practice Guidelines as Topic
Metadata
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Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. 2012, 83 (7):706-10 J. Neurol. Neurosurg. Psychiatr.Journal
Journal of neurology, neurosurgery, and psychiatryDOI
10.1136/jnnp-2012-302451PubMed ID
22577229Abstract
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.Item Type
ArticleLanguage
enISSN
1468-330Xae974a485f413a2113503eed53cd6c53
10.1136/jnnp-2012-302451
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