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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):690-2. doi: 10.3760/cma.j.issn.1003-9406.2012.06.014.

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

[Article in Chinese]

Author information

1
Department of Neurology, Union Hospital, Fujian Medical University, Fuzhou, Fujian 350001, PR China.

Abstract

OBJECTIVE:

To investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita.

METHODS:

Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced.

RESULTS:

The proband from the affected family was found to carry a c.1024G>A heterozygous missense mutation in exon 8, whilst the sporadic patient has carried a c.1292C>T heterozygous missense mutation in exon 11.

CONCLUSION:

Detection of CLCN1 gene mutation is an effective method for the diagnosis of myotonia congenita. Exon 8 of CLCN1 gene may be a mutational hotspot in Chinese patients with myotonia congenita.

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