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Article

Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita.

The Medical journal of Australia - 16 Mar 2009

Parasivam Sharavanan, Krupa Malgorzata, Slee Mark, Thyagarajan Dominic E, Dominic Thyagarajan E

Abstract excerpt

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...

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PMID: 19296818
DOI: 10.5694/j.1326-5377.2009.tb02500.x

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