Tahmoush A J, Schaller K L, Zhang P, Hyslop T, Heiman-Patterson T, Caldwell J H
Department of Neurology, Thomas Jefferson University, Philadelphia, PA 19107.
Neuromuscul Disord. 1994 Sep-Nov;4(5-6):447-54. doi: 10.1016/0960-8966(94)90083-3.
Mutations of the skeletal muscle sodium (Na) channel have been reported in families with paramyotonia congenita (PC), an autosomal dominant disorder with cold and/or exercise induced stiffness and myotonia. Functional consequences of specific Na channel mutations responsible for PC have not been described. Patch clamp recording of single Na channels were made in cultured myotubes at 22 and 34 degrees C from a PC patient with the thr1313met mutation. Cell-attached and outside-out recordings of mutant PC channels contained long duration and late openings. The mean open time was increased and the ensemble average showed a prolonged inward Na current. This membrane depolarization could cause repetitive action potentials and the clinical syndrome.
在患有先天性副肌强直（PC）的家族中已报道了骨骼肌钠（Na）通道的突变，PC是一种常染色体显性疾病，具有寒冷和/或运动诱发的僵硬和肌强直。导致PC的特定钠通道突变的功能后果尚未见描述。对一名患有thr1313met突变的PC患者的培养肌管在22摄氏度和34摄氏度下进行了单钠通道的膜片钳记录。突变型PC通道的细胞贴附式和外侧向外式记录显示出长时间开放和延迟开放。平均开放时间增加，总体平均值显示内向钠电流延长。这种膜去极化可导致重复动作电位和临床综合征。
