Ruscák J
Neurologické oddelenie Nemocnice s poliklinikou v Dunajskej Strede Neurology Department, District Hospital, Dunajská Streda, Slovakia.
Bratisl Lek Listy. 1997 Dec;98(12):701-7.
The common molecular basis of hyperkalemic periodic paralysis, of paramyotonia congenita and that of myotonia fluctuans are the mutations of sodium channel SCN4A gene. The mutations result in an increased probability of channel openings at rest, or slightly decreased membrane potentials, and in delayed channel inactivation, both contributing either to myotonia or paralysis. Because of the lack of a sufficient amount of molecular genetic analyses of the above mentioned diseases, the precise clinical condition cannot be predicted according to the mutation position in the channel polypeptide as the same condition can be caused by mutations in different positions and, vice versa, mutations in the same position result in different clinical conditions. Causal therapy of these conditions is not known yet. (Fig. 1, Tab. 1, Ref. 47.)
高钾性周期性麻痹、先天性副肌强直和波动性肌强直的共同分子基础是钠通道SCN4A基因突变。这些突变导致静息时通道开放的概率增加，或膜电位略有降低，以及通道失活延迟，这两者都导致肌强直或麻痹。由于对上述疾病缺乏足够的分子遗传学分析，无法根据通道多肽中的突变位置预测确切的临床情况，因为不同位置的突变可导致相同的情况，反之，相同位置的突变可导致不同的临床情况。这些病症的病因治疗方法尚不清楚。（图1，表1，参考文献47）
