RECESSIVE CLCN1 MUTATION PRESENTING AS THOMSEN DISEASE

被引：4

作者：

Thomas, Judy ^{[1
]}

Tarleton, Jack ^{[2
]}

Baker, Steven K. ^{[1
]}

机构：

[1] McMaster Univ, Med Ctr, Dept Med Phys Med & Neurol, Neuromusc Dis Clin, Hamilton, ON L8N 3Z5, Canada

[2] Mission Hosp, Fullerton Genet Lab, Asheville, NC USA

来源：

MUSCLE & NERVE | 2008年 / 38卷 / 05期

关键词：

case report; myotonia congenita; myotonia; electromyography;

D O I：

10.1002/mus.21121

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This case report describes a young man referred for electrodiagnostic evaluation for hand stiffness and intermittent numbness. His needle electromyography revealed diffusely increased insertional and spontaneous motor activity in the form of myotonic discharges. Given the finding of symptomatic myotonia also in his mother, Thomsen myotonia was suspected. Investigations not only confirmed Thomsen myotonia, but also led to the identification of a previously reported heterozygous Becker mutation in both the proband and his mother.

引用

页码：1515 / 1517

页数：3

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