Further observations in congenital myasthenic syndromes

被引：27
|
作者：
Engel, Andrew G. [2 ]
Shen, Xin-Ming [2 ]
Selcen, Duygu [2 ]
Sine, Steven M. [1 ]
机构：
[1] Mayo Clin, Coll Med, Dept Physiol & Biomed Engn, Rochester, MN 55905 USA
[2] Mayo Clin, Dept Neurol, Muscle Res Lab, Coll Med, Rochester, MN 55905 USA
来源：
MYASTHENIA GRAVIS AND RELATED DISORDERS: 11TH INTERNATIONAL CONFERENCE | 2008年 / 1132卷
关键词：
congenital myasthenic syndromes; acetylcholinesterase; choline acetyltransferase; acetylcholine receptor; Dok-7;
D O I：
10.1196/annals.1405.039
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (ACNE), choline acetyltransferase, Na(v)1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.
引用
收藏
页码：104 / 113
页数：10
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