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.