Autosomal dominant monosymptomatic myotonia permanens.
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.
Colding-Jørgensen
Eskild
E
Department of Clinical Neurophysiology, Glostrup Hospital, University of Copenhagen, Glostrup, Denmark. escj@glostruphosp.kbhamt.dk
Duno
Morten
M
Vissing
John
J
D002648:Child; D004252:DNA Mutational Analysis; D004576:Electromyography / Q000379:methods; D005192:Family Health; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009222:Myotonia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009224:Myotonia Congenita / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D062553:NAV1.4 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*
D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D018698:Glutamic Acid; D005998:Glycine