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  • Title: Autosomal dominant monosymptomatic myotonia permanens.
    Author: Colding-Jørgensen E, Duno M, Vissing J.
    Journal: Neurology; 2006 Jul 11; 67(1):153-5. PubMed ID: 16832098.
    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.
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