700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ ReadersThis Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)
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.
To read the full article Peer-reviewed Article PDF
Author(s): Rajesh K Kulkarni Ashok D Rathod
Paramyotonia, Exacerbation by cold, Acetazolamide, Arg 1448 Cys mutation at SCN4A gene