| Literature DB >> 19296818 |
Sharavanan Parasivam1, Malgorzata Krupa, Mark Slee, Dominic E Thyagarajan, Thyagarajan E Dominic.
Abstract
A 32-year-old woman with a 4-year history of multiple sclerosis presented with persistent clawing of the right hand. History revealed that she and five family members had lifelong symptoms of paradoxical myotonia (impaired relaxation of muscles following muscle contraction), exacerbated by cold. The family was diagnosed with paramyotonia congenita, based on neurophysiological and genetic studies. To our knowledge, this is the first report of an Australian family with paramyotonia congenita.Entities:
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Year: 2009 PMID： 19296818 DOI： 10.5694/j.1326-5377.2009.tb02500.x
Source DB: PubMed Journal: Med J Aust ISSN： 0025-729X Impact factor: 7.738