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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