Paramyotonia congenita without cold paralysis and myotonia levoir. A genetic and clinical study.
A family with myotonia congenita without cold paralysis in 26 affected members is described. Cold paralysis never occurred spontaneously in this family and could not be provoked by immersion in ice water or by K+ load. The findings confirm the existence of paramyotonia without cold paralysis as a separate genetic entity.
D000293:Adolescent; D000328:Adult; D002648:Child; D003080:Cold Temperature; D005260:Female; D006801:Humans; D008297:Male; D009224:Myotonia Congenita / Q000175:diagnosis / Q000235:genetics*; D010243:Paralysis; D011188:Potassium
D011188:Potassium