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Articles Published Processes
9/20/2014 7:36:00 PM | Browse: 1302 | Download: 998
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Received |
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2013-06-28 09:53 |
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Peer-Review Started |
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2013-06-28 15:48 |
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To Make the First Decision |
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2013-07-19 08:38 |
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Return for Revision |
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2013-07-20 13:20 |
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Revised |
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2013-07-23 17:23 |
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Second Decision |
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2013-08-16 19:43 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2013-08-16 23:30 |
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Articles in Press |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2013-09-23 17:08 |
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Publish the Manuscript Online |
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2013-09-26 18:43 |
Category |
Genetics & Heredity |
Manuscript Type |
Review |
Article Title |
Advances in the molecular diagnosis of Charcot-Marie-Tooth disease
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Manuscript Source |
Invited Manuscript |
All Author List |
Paschalis Nicolaou and Kyproula Christodoulou |
Funding Agency and Grant Number |
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Corresponding Author |
Kyproula Christodoulou, PhD, Professor of the Cyprus School of Molecular Medicine, Head of the Neurogenetics Department, Cyprus Institute of Neurology and Genetics, 6 International Airport Av., P.O. Box 23462, 1683 Nicosia, Cyprus. roula@cing.ac.cy
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Key Words |
Charcot-Marie-Tooth disease; Charcot-Marie-Tooth; Neuropathy; Genetics; Molecular diagnosis |
Core Tip |
Charcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder affecting at least 1 in 2500. CMT according to electrophysiological and pathological findings is categorised into demyelinating, axonal and intermediate forms and inheritance can be autosomal dominant, X-linked, or autosomal recessive. More than 30 causative genes have been identified. This editorial aims to present an efficient account of molecular diagnostic procedures for CMT, based on clinical, pathological and electrophysiological findings as well as summarize the most frequent causative mutations.
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Publish Date |
2013-09-26 18:43 |
Citation |
Nicolaou P, Christodoulou K. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease. World J Neurol 2013; 3(3): 42-55 |
URL |
http://www.wjgnet.com/2218-6212/full/v3/i3/42.htm |
DOI |
http://dx.doi.org/10.5316/wjn.v3.i3.42 |
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