Axonal Charcot–Marie–Tooth disease
- 26 July 2005
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 65 (2) , 186-187
- https://doi.org/10.1212/01.wnl.0000173904.97549.94
Abstract
In the last 15 years, there have been rapid advances in identifying the underlying genetic defects in CMT, initially in autosomal dominant (AD) CMT1 but also in recent years in AD CMT2 and autosomal recessive (AR) CMT. As AD CMT is more common than the AR or the x-linked forms except in specific ethnic groups, the identification of a 1.5 Mb duplication of chromosome 17 containing the peripheral myelin protein 22 gene as the predominant cause of AD CMT1 and accounting for …Keywords
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