Paramyotonia congenita: Genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene
Paramyotonia congenita: Genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene
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DOI：
10.1016/0022-510x(96)00173-6
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发表时间：
1996-10-01
影响因子：
4.4
通讯作者：
Fontaine, B
中科院分区：
文献类型：
--
作者：
Plassart, E;Eymard, B;Fontaine, B
钠通道紊乱包括高钾性周期性麻痹（hyperPP）、先天性肌张力异常（PC）和钾加重性肌强直（PAM）。PC是一种以冷致肌肉僵硬和无力为特征的肌强直综合征，本文报道了两个家族，第一个家族受PC影响，冷致肌肉僵硬，无无力，此外还有hyperPP。该家族在钠通道基因中显示Arg 1448Cys突变，该突变最初在纯PC家族中描述。具有相同突变的家族呈现不同表型的事实表明，其他因素，遗传或环境因素，可能调节钠通道疾病的表达。第二个家庭是不寻常的，因为病人表现出寒冷引起的虚弱而没有僵硬。在钠通道基因中发现了一个突变，在693位将异亮氨酸变成了苏氨酸。这两个家族表明，钠通道突变可能导致冷诱导的僵硬或虚弱。
Sodium channel disorders include hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and potassium-aggravated myotonia (PAM). PC is a myotonic syndrome characterized by cold-induced muscle stiffness and weakness, In this paper, we report two families, The first is affected by PC with cold-induced stiffness and no weakness, in addition to hyperPP. This family displays the Arg 1448Cys mutation in the sodium channel gene originally described in pure PC families. The fact that families with the same mutation present distinct phenotypes indicates that other factors, genetic or environmental, may modulate the expression of the disease in sodium channel disorders. The second family was unusual because patients presented cold-induced weakness without stiffness. A mutation was found in the sodium channel gene that changed an isoleucine into a threonine at position 693. These two families demonstrate that sodium channel mutations may cause either cold-induced stiffness or weakness.