Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Hdl Handle:
http://hdl.handle.net/10147/254556
Title:
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Authors:
Murphy, Sinead M; Laura, 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.
Citation:
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. 2012, 83 (7):706-10 J. Neurol. Neurosurg. Psychiatr.
Publisher:
Journal of neurology, neurosurgery, and psychiatry
Journal:
Journal of neurology, neurosurgery, and psychiatry
Issue Date:
Jul-2012
URI:
http://hdl.handle.net/10147/254556
DOI:
10.1136/jnnp-2012-302451
PubMed ID:
22577229
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.
Item Type:
Article
Language:
en
MeSH:
Charcot-Marie-Tooth Disease; Cohort Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Genetic Testing; Humans; Male; Mutation; Practice Guidelines as Topic
ISSN:
1468-330X

Full metadata record

DC FieldValue Language
dc.contributor.authorMurphy, Sinead Men_GB
dc.contributor.authorLaura, Matildeen_GB
dc.contributor.authorFawcett, Katherineen_GB
dc.contributor.authorPandraud, Amelieen_GB
dc.contributor.authorLiu, Yo-Tsenen_GB
dc.contributor.authorDavidson, Gabrielle Len_GB
dc.contributor.authorRossor, Alexander Men_GB
dc.contributor.authorPolke, James Men_GB
dc.contributor.authorCastleman, Victoriaen_GB
dc.contributor.authorManji, Hadien_GB
dc.contributor.authorLunn, Michael P Ten_GB
dc.contributor.authorBull, Karenen_GB
dc.contributor.authorRamdharry, Gitaen_GB
dc.contributor.authorDavis, Maryen_GB
dc.contributor.authorBlake, Julian Cen_GB
dc.contributor.authorHoulden, Henryen_GB
dc.contributor.authorReilly, Mary Men_GB
dc.date.accessioned2012-12-05T11:48:56Z-
dc.date.available2012-12-05T11:48:56Z-
dc.date.issued2012-07-
dc.identifier.citationCharcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. 2012, 83 (7):706-10 J. Neurol. Neurosurg. Psychiatr.en_GB
dc.identifier.issn1468-330X-
dc.identifier.pmid22577229-
dc.identifier.doi10.1136/jnnp-2012-302451-
dc.identifier.urihttp://hdl.handle.net/10147/254556-
dc.description.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.en_GB
dc.language.isoenen
dc.publisherJournal of neurology, neurosurgery, and psychiatryen_GB
dc.rightsArchived with thanks to Journal of neurology, neurosurgery, and psychiatryen_GB
dc.subject.meshCharcot-Marie-Tooth Disease-
dc.subject.meshCohort Studies-
dc.subject.meshFemale-
dc.subject.meshGene Frequency-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGenetic Testing-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMutation-
dc.subject.meshPractice Guidelines as Topic-
dc.titleCharcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.en_GB
dc.typeArticleen
dc.contributor.departmentMRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.en_GB
dc.identifier.journalJournal of neurology, neurosurgery, and psychiatryen_GB
dc.description.provinceLeinsteren

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