Novel chloride channel mutations leading to mild myotonia among Chinese

作者：Burgunder Jean Marc^*; Shang Huifang; Beguin Pascal; Baur Roland; Eng Chew Soh; Seet Raymond C S; Lim Erle C H; Ong Benjamin K C; Hunziker Walter; Sigel Erwin

来源：Neuromuscular Disorders, 2008, 18(8): 633-640.

DOI：10.1016/j.nmd.2008.05.007

• myotonia congenita
• mutation
• Chinese
• chloride channel
• physiology

We describe two Chinese families with a mild form of the myotonia congenita due to novel chloride channel (C/CN1) mutations. In one case, heterozygous 1553F and H555N mutations were found. The patient shared the 1553F mutation with his healthy father, and his mother had a history of mild myotonia when she was younger. In another family, autosomal dominant myotonia congenita was due to a L844F change. The physiological effects of the mutations were examined by using the two-electrode voltage-clamp technique after expression of the channels in Xenopus oocytes. All mutations drastically shifted the voltage required for half-maximal activation, more under conditions mimicking the homozygous situation, than under conditions mimicking the heterozygous situation. The larger effect was seen in the compound heterozygous situation combining the 1553F and the H555N mutations. Our data suggest that myotonia congenita caused by CLCN1 mutations in Chinese have similar variable features to those found in the West.

• 出版日期2008-8
• 单位四川大学