Essential Sources in the Scientific Study of Consciousness: Edited by Bernard J. Baars, William P. Banks and James P. Newman; The MIT Press, 2003, 1192 pages, paperback, ISBN: 0-262-52302-7, £39.

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• 作者：Anna Basu
• 关键词：Charcot-Marie-Tooth type 1 disease ; Frame-shift mutation in the MPZ gene
• 刊名：European Journal of Paediatric Neurology
• 出版年：2004
• 出版时间：July 2004
• 年：2004
• 卷：8
• 期：4
• 页码：226
• 全文大小：28 K

文摘

The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from congenital hypomyelinating neuropathy (CHN) through demyelinating form of CMT to the axonal type of CMT disease. Within 94 MPZ gene mutations reported up to now, only a few were identified in the exon 4 of the MPZ gene. In this study we have identified a novel Leu190fs mutation in the MPZ gene. The Leu190fs mutation was found in a 14-year-old girl suffering from Charcot-Marie-Tooth type 1 disease (CMT1) with onset in early infancy. Similarly to the other MPZ gene frame-shift mutations reported as far the Leu190fs seems to have a dominant negative effect.