肌强直
钠通道
先天性肌强直
内科学
医学
内分泌学
遗传学
化学
钠
生物
强直性营养不良
有机化学
作者
K. Ricker,Richard T. Moxley,R Heine,F. Lehmann‐Horn
标识
DOI:10.1001/archneur.1994.00540230033009
摘要
Myotonia fluctuans is a disorder of the muscle sodium channel. There are at present two other distinct clinical muscle disorders associated with mutations in the sodium channel: hyperkalemic periodic paralysis and paramyotonia congenita. The findings in the present report indicate that myotonia fluctuans belongs to a third type of sodium channel disorder. Further work is needed to understand the complex genotype-phenotype correlations in sodium channel disorders.
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