A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification

Neuromuscular Disorders : NMD
D FerribyP Vermersch

Abstract

We report a phenotype associated with the Val1589Met substitution in SCN4A gene in a French family which would be better classified as paramyotonia congenita. The proband was a 48-year-old woman, who described muscle stiffness and occasional flaccid weakness, both symptoms being induced by exercise, cold and heat. Severe muscle stiffness affected facial, oropharyngeal and limb muscles leading to transient paralysis of these muscles. One sister, two nephews and the son of the proband had similar symptoms. Molecular analysis of the muscle sodium channel gene (SCN4A) by nucleotide sequencing revealed a G-to-A transition of cDNA nucleotide at position 4765 predicting a substitution of methionine for valine at position 1589. This shows that the Val1589Met mutation in the SCN4 gene may cause different phenotypes, either potassium-aggravated myotonia or paramyotonia congenita. Familial or individual factors other than the missense mutation per se influence the expression of the disease in sodium channel disorders.

References

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Citations

Nov 18, 2009·Brain : a Journal of Neurology·E MatthewsUNKNOWN CINCH Investigators
Sep 15, 2014·Experimental Neurology·E Matthews, M G Hanna
Jun 15, 2011·Neuromuscular Disorders : NMD·Véronique BissayJacques De Keyser
Dec 12, 2013·Computer Methods and Programs in Biomedicine·Samira AbbasiYashar Sarbaz
Jan 19, 2008·American Journal of Medical Genetics. Part a·Sébastien GayChristel Thauvin-Robinet
Feb 23, 2020·Journal of Neuromuscular Diseases·Tomoya TaminatoYuji Takahashi
Dec 17, 2020·Journal of Neuromuscular Diseases·Jean-François DesaphyBertrand Fontaine

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