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Med J Aust. 2009 Mar 16;190(6):334-6.

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

Author information

1
Neurology Department, Flinders Medical Centre, Adelaide, SA, Australia. Sharavanan.Parasivam@fmc.sa.gov.au

Erratum in

  • Med J Aust. 2009 Apr 20;190(8):456. Dominic, Thyagarajan E [corrected to Thyagarajan, Dominic E].

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.

PMID:
19296818
[Indexed for MEDLINE]

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