RT Journal Article SR Electronic T1 Autosomal dominant monosymptomatic myotonia permanens JF Neurology JO Neurology FD Lippincott Williams & Wilkins SP 153 OP 155 DO 10.1212/01.wnl.0000223838.88872.da VO 67 IS 1 A1 Colding-Jørgensen, Eskild A1 Duno, Morten A1 Vissing, John YR 2006 UL http://n.neurology.org/content/67/1/153.abstract 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.