Sodium channelopathies of skeletal muscle result from gain or loss of function.
Sodium channelopathies of skeletal muscle result from gain or loss of function.
复制标题
DOI：
10.1007/s00424-010-0814-4
复制
发表时间：
2010-07
影响因子：
4.5
通讯作者：
Lehmann-Horn, Frank
中科院分区：
文献类型：
--
作者：
Jurkat-Rott, Karin;Holzherr, Boris;Fauler, Michael;Lehmann-Horn, Frank
关键词：
骨骼肌的五种遗传性钠通道病已被确定。突出的症状是由肌纤维兴奋性的增加或减少引起的肌强直或无力。电压门控钠通道NaV1.4是肌肉动作电位的启动器，在这五种疾病中都发生了突变。在病理学上，功能突变的丧失和获得都已被描述，后者是更常见的机制，不仅涉及离子传导孔，也涉及异常孔。通道功能障碍的类型对治疗是决定性的，包括对钠通道施加直接影响，即通过阻塞孔，或恢复骨骼肌膜电位以减少失活通道的比例。
Five hereditary sodium channelopathies of skeletal muscle have been identified. Prominent symptoms are either myotonia or weakness caused by an increase or decrease of muscle fiber excitability. The voltage-gated sodium channel NaV1.4, initiator of the muscle action potential, is mutated in all five disorders. Pathogenetically, both loss and gain of function mutations have been described, the latter being the more frequent mechanism and involving not just the ion-conducting pore, but aberrant pores as well. The type of channel malfunction is decisive for therapy which consists either of exerting a direct effect on the sodium channel, i.e., by blocking the pore, or of restoring skeletal muscle membrane potential to reduce the fraction of inactivated channels.
登录
查看更多内容
影响因子：
16.2
作者：
CHAHINE, M;GEORGE, AL;HORN, R
通讯作者：
HORN, R
影响因子：
15.9
作者：
Jarecki, Brian W.;Piekarz, Andrew D.;Cummins, Theodore R.
通讯作者：
Cummins, Theodore R.
影响因子：
4.5
作者：
Kuzmenkin, A;Jurkat-Rott, K;Mitrovic, N
通讯作者：
Mitrovic, N
DOI：
10.1196/annals.1254.016
发表时间：
2003-01-01
期刊：
MYASTHENIA GRAVIS AND RELATED DISORDERS
影响因子：
--
作者：
Engel, AG;Ohno, K;Sine, SM
通讯作者：
Sine, SM
影响因子：
5.5
作者：
ADRIAN, RH;MARSHALL, MW
通讯作者：
MARSHALL, MW