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Article

Paramyotonia congenita due to a de novo mutation: a case report.

Muscle & nerve - 1 Aug 2003

Fukudome Takayasu, Izumoto Hajime, Goto Hirofumi, Matsuo Hidenori, Yoshimura Toshiro, Sakoda Shun-Ichi, Shibuya Noritoshi

Abstract excerpt

A Japanese man with a negative family history of paramyotonia congenita (PMC) was evaluated for symptoms of cold-induced weakness and stiffness. Exercise testing revealed findings characteristic of PMC, and a genetic analysis was therefore performed. A well-known sodium channel mutation for PMC (T1313M) was identified in the patient, but was absent in his biological parents. These data demonstrate the occurrence...

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PMID: 12872329
DOI: 10.1002/mus.10396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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