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Article

Focal and abnormally persistent paralysis associated with congenital paramyotonia.

BMJ case reports - 17 Jun 2014

Magot Armelle, David Albert, Sternberg Damien, Péréon Yann

Abstract excerpt

Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia and cold-induced persistent and focal paralysis. A 27-year-old woman presented with paramyotonia congenita since her...

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Identifiers

PMID: 24939454
DOI: 10.1136/bcr-2014-204430
PMCID: PMC4069699

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