TITLE

Paramyotonia congenita with mutation at SCN4A gene

AUTHOR(S)
Kulkarni, Rajesh K.; Rathod, Ashok D.
PUB. DATE
January 2010
SOURCE
Current Pediatric Research;Jan2010, Vol. 14 Issue 1, p29
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
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.
ACCESSION #
51892687

 

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