X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients
Author:
Affiliation:
1. Division of Neurology; Department of Medicine; University of Malaya; Lembah Pantai 50603 Kuala Lumpur Malaysia
2. Department of Biomedical Science; Faculty of Medicine; University of Malaya; Kuala Lumpur Malaysia
Funder
Ministry of Higher Education
University of Malaya
Publisher
Wiley
Subject
Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.23892/fullpdf
Reference23 articles.
1. Genetic and clinical aspects of Charcot-Marie-Tooth's disease;Skre;Clin Genet,1974
2. The clinical features of hereditary motor and sensory neuropathy types I and II;Harding;Brain,1980
3. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease;Dubourg;Neuromol Med,2006
4. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J Neurol Neurosurg Psychiatry,2012
5. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan;Abe;J Hum Genet,2011
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