J Clin Neurol.  2016 Oct;12(4):509-511. 10.3988/jcn.2016.12.4.509.

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A

• Chung KW
• Yoo DH
• Lee SJ
• Choi BO
• Lee SS

• KMID: 2385120
• DOI: http://doi.org/10.3988/jcn.2016.12.4.509

Abstract

No abstract available.

MeSH Terms

Humans
Myotonia Congenita*
Myotonia*

Figure

• 

  Fig. 1 Pedigree, physique, and genetic information of a large myotonia congenita family with the c.G3877A (p.V1293I) mutation in SCN4A. A: Pedigree of an autosomal dominant myotonia congenita family. The c.G3877A genotype is indicated underneath each examined individual. The proband is indicated by an arrow, with unaffected and affected individuals indicated by open and filled symbols, respectively. B: Photograph of the thigh and leg of the proband. C: Sequencing chromatograms of the c.G3877A mutation. Vertical arrow indicates the mutation site. D: Conservation of the mutation site in the SCN4A protein. E: Pathogenic mutations that have been reported in the SCN4A. The p.V1293I mutation is highlighted by the red box. The mutation sites are indicated by small circles of the following different colors (allele information from OMIM website: http://omim.org/allelicVariant/603967): red (myotonia congenita/fluctuans), yellow (paramyotonia congenita), green (hypokalemic periodic paralysis), purple (myasthenic syndrome), black (normokalemic periodic paralysis), pink (paramyotonia congenita or myotonia congenita), and blue (paramyotonia congenita or hyperkalemic periodic paralysis).

Reference

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