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PubMed 16832098


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Title: Autosomal dominant monosymptomatic myotonia permanens.

Authors: Eskild Colding-Jørgensen, Morten Duno, John Vissing

Journal, date & volume: Neurology, 2006 Jul 11 , 67, 153-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16832098


Abstract
Myotonia permanens is associated with a G1306E mutation in the SCN4A gene. Two sporadic patients have been reported, but the clinical phenotype has not been fully characterized. The authors report a family in which the disease is autosomal dominantly inherited. The patients have severe myotonia, but the clinical picture is not qualitatively different from that seen in other nondystrophic myotonias.