Article

Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review

2019-08-06

Abstract excerpt

<h4>Introduction: </h4> Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom, and interictal persistent weakness is uncommon. Case presentation We report a family with a history of PC accompanied by persistent distal hand dominant...

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Literature Corpus work: 94db1d65-d7a8-545d-bfb1-be30e2efa0a1
DOI: 10.21203/rs.2.359/v2

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