UMR 6097, CNRS, TIANP, University of Nice Sophia-Antipolis Nice, France.
Front Pharmacol. 2011 Oct 14;2:63. doi: 10.3389/fphar.2011.00063. eCollection 2011.
Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Na(v)1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the importance of understanding the role of the sodium channel in skeletal muscle function and disease state grows.
五种影响骨骼肌收缩的遗传性人类疾病已被追溯到编码电压门控钠离子通道 Na(v)1.4 的基因突变。这些疾病的主要症状是由骨骼肌纤维兴奋性变化引起的肌强直或周期性瘫痪。这些疾病的症状从轻度或潜伏疾病到严重情况下的致残甚至死亡不等。随着与疾病状态相对应的新的人类钠离子通道突变的发现，了解钠离子通道在骨骼肌功能和疾病状态中的作用变得越来越重要。
