PT - JOURNAL ARTICLE AU - Colding-Jørgensen, Eskild AU - Duno, Morten AU - Vissing, John TI - Autosomal dominant monosymptomatic myotonia permanens AID - 10.1212/01.wnl.0000223838.88872.da DP - 2006 Jul 11 TA - Neurology PG - 153--155 VI - 67 IP - 1 4099 - http://n.neurology.org/content/67/1/153.short 4100 - http://n.neurology.org/content/67/1/153.full SO - Neurology2006 Jul 11; 67 AB - 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.