Voltage-gated ion channelopathies: inherited disorders caused by abnormal sodium, chloride, and calcium regulation in skeletal muscle.
Voltage-gated ion channelopathies: inherited disorders caused by abnormal sodium, chloride, and calcium regulation in skeletal muscle.
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电压门控离子通道病：骨骼肌钠、氯和钙调节异常引起的遗传性疾病。
DOI：
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发表时间：
1995
影响因子：
10.5
通讯作者：
E. P. Hoffman
中科院分区：
文献类型：
--
作者：
E. P. Hoffman
遗传性肌强直和周期性麻痹的病理遗传缺陷最近被分子遗传学研究阐明。这些疾病通常作为一种显性特征从受影响的父母传给孩子。许多临床症状包括冷诱导的不可控制的肌肉收缩、钾诱导的收缩和麻痹、肌强直伴剧烈肌肉肥大、肌肉僵硬和胰岛素诱导的麻痹（男性）。患有这种疾病的马可能会突然倒下，尽管体格令人印象深刻。在过去的三年中，这些临床定义的疾病已被证明有一个共同的病因：肌肉纤维膜中离子通道的细微缺陷。虽然所涉及的特定离子通道因疾病而异，但大多数患者的通道蛋白质中存在单个氨基酸变化，每个肌纤维中都存在正常和突变通道。对于每一位患者，我们现在可以在面对重叠的临床症状时建立精确的分子诊断，并根据首要问题开始特定的药理学治疗。这些研究还提供了对基本肌肉生物学的深入了解，并强调了肌肉兴奋中离子的仔细调节。
The pathological genetic defects in the inherited myotonias and periodic paralyses were recently elucidated using molecular genetic studies. These disorders are usually transmitted as a dominant trait from an affected parent to a child. The many clinical symptoms include cold-induced uncontrollable contraction of muscle, potassium-induced contraction and paralysis, myotonia with dramatic muscular hypertrophy, muscle stiffness, and insulin-induced paralysis (in males). Horses afflicted with the disorder can suddenly collapse, despite an impressive physique. In the past three years, these clinically defined disorders have been shown to share a common etiology: subtle defects of ion channels in the muscle-fiber membrane. Although the specific ion channel involved varies depending on the disease, most patients have single amino acid changes in the channel proteins, with both normal and mutant channels present in each muscle fiber. For each patient, we can now establish a precise molecular diagnosis in the face of overlapping clinical symptoms and begin specific pharmacological treatment based on the primary problem. These studies have also provided insight into basic muscle biology and emphasize the careful regulation of ions in muscle excitation.
恶性高热杂合猪的 Ca2 释放通道。
DOI：
10.1002/mus.880181013
发表时间：
1995
期刊：
Muscle & nerve.
影响因子：
--
作者：
Shomer,NH;Mickelson,JR;Louis,CF
通讯作者：
Louis,CF
人类骨骼肌钠通道基因的基因组结构。
影响因子：
3.5
作者：
McClatchey,AI;Lin,CS;Wang,J;Hoffman,EP;Rojas,C;Gusella,JF
通讯作者：
Gusella,JF
先天性副肌强直和高钾性周期性麻痹映射到相同的钠通道基因位点。
影响因子：
9.8
作者：
Ptacek,LJ;Trimmer,JS;Agnew,WS;Roberts,JW;Petajan,JH;Leppert,M
通讯作者：
Leppert,M