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

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 83, Issue 7, 2012, Pages 706-710

  Murphy, Sinead M ^a,b,c   Laura, Matilde ^a,b   Fawcett, Katherine ^a,b   Pandraud, Amelie ^a,b   Liu, Yo Tsen ^a,b   Davidson, Gabrielle L ^a,b   Rossor, Alexander M ^a,b   Polke, James M ^c   Castleman, Victoria ^a,b   Manji, Hadi ^a,b   Lunn, Michael P T ^a,b   Bull, Karen ^a,b   Ramdharry, Gita ^a,b   Davis, Mary ^a,b   Blake, Julian C ^a,b,d   Houlden, Henry ^a,b   Reilly, Mary M ^a,b  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ADELAIDE AND MEATH HOSPITAL   (Ireland)

^d NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALGORITHM; ARTICLE; CLINICAL PRACTICE; COHORT ANALYSIS; DISEASE CLASSIFICATION; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MFN2 GENE; MOLECULAR DIAGNOSIS; MPZ GENE; PMP22 GENE; POPULATION GENETICS; PRACTICE GUIDELINE; PRIORITY JOURNAL; UNITED KINGDOM;

CHARCOT-MARIE-TOOTH DISEASE; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MUTATION; PRACTICE GUIDELINES AS TOPIC;

EID: 84861908529     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-302451     Document Type: Article

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