Paramyotonia congenita due to a de novo mutation: A case report | Zendy

Fukudome Takayasu | Zendy; Izumoto Hajime | Zendy; Goto Hirofumi | Zendy; Matsuo Hidenori | Zendy; Yoshimura Toshiro | Zendy; Sakoda ShunIchi | Zendy; Shibuya Noritoshi | Zendy

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

Author(s) -

Fukudome Takayasu,

Izumoto Hajime,

Goto Hirofumi,

Matsuo Hidenori,

Yoshimura Toshiro,

Sakoda ShunIchi,

Shibuya Noritoshi

Publication year - 2003

Publication title -

muscle and nerve

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.025

H-Index - 145

eISSN - 1097-4598

pISSN - 0148-639X

DOI - 10.1002/mus.10396

Subject(s) - family history , mutation , medicine , myotonia congenita , weakness , genetics , pediatrics , surgery , biology , myotonia , gene , myotonic dystrophy

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 of a de novo mutation, suggesting that evaluation for PMC should be performed in patients with typical symptoms even if the family history is negative. Muscle Nerve 28: 232–235, 2003

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