Paramyotonia congenita with mutation at SCN4A gene

Kulkarni, Rajesh K.; Rathod, Ashok D.
January 2010
Current Pediatric Research;Jan2010, Vol. 14 Issue 1, p29
Academic Journal
Case Study
Paramyotonia Congenita is a rare neuromuscular disorder characterized by paradoxical myotonia. Nine persons affected in a family over three generations are reported. The pro-band, 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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