Article
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 - 1 May 2006
Ferriby D, Stojkovic T, Sternberg D, Hurtevent J-F, Hurtevent J-P, Vermersch P
Abstract excerpt
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...
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