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.