Novel mutations in the muscle chloride channel CLCN1gene causing myotonia congenita in Spanish families

Autor: de Diego, C., Gámez, J., Plassart-Schiess, E., Lasa, A., Del Río, E., Cervera, C., Baiget, M., Gallano, P., Fontaine, B.
Zdroj: Journal of Neurology; September 1999, Vol. 246 Issue: 9 p825-829, 5p
Abstrakt: Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, lead to recessive and dominant myotonia congenita. We report four novel mutations identified in this gene, after clinical, electromyographic, and genetic studies performed on 13 unrelated families. Two of the four mutations (2512insCTCA and A218T) were identified in families with Thomsen’s disease, one (Q658X) in a family with Becker’s disease, and the fourth (R669C) in a presumably sporadic patient with the Becker phenotype. Although identification of the mutations allows us to establish some genotype/phenotype correlations, this does not wholly account for the clinical heterogenity and the inheritance patterns of the disease.
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