Key result
A novel Pro1158Ser mutation in the SCN4A gene was identified in a Japanese family, causing dominantly inherited heat-induced myotonia and cold-induced paralysis with hypokalemia.
Population
A Japanese family with dominantly inherited heat-induced myotonia and cold-induced paralysis with hypokalemia
Design
Case_report
Authors
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May inform SCN4A testing in temperature-sensitive myotonia families; leaves open pathogenicity and generalizability pending replication.
Case Report
Identifies a novel Pro1158Ser mutation in SCN4A associated with temperature-sensitive myotonia and paralysis.
Sugiura et al. (2000) conducted a case report in Heat-induced myotonia and cold-induced paralysis with hypokalemia. Pro1158Ser mutation in SCN4A was evaluated on Phenotype association with mutation. A novel Pro1158Ser mutation in the SCN4A gene was identified in a Japanese family, causing dominantly inherited heat-induced myotonia and cold-induced paralysis with hypokalemia.
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