Autosomal dominant monosymptomatic myotonia permanens.
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Colding-Jorgensen E, Duno M, Vissing J
Autosomal dominant monosymptomatic myotonia permanens.
Neurology. 2006 Jul 11;67(1):153-5.
- PubMed ID
- 16832098 [ View in PubMed]
- Abstract
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.