alexa Abstract | Paramyotonia congenita with mutation at SCN4A gene

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Paramyotonia Congenita is a rare neuromuscular disorder characterized by paradoxical myotonia. Nine persons affected in a family over three generations are reported. The proband, who had the most severe symptoms, responded well to acetazolamide. This is the first report of kindred with paramyotonia congenita with proven Arg 1448 Cys mutation at SCN4A gene from India.

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Author(s): Rajesh K Kulkarni Ashok D Rathod


Paramyotonia, Exacerbation by cold, Acetazolamide, Arg 1448 Cys mutation at SCN4A gene

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