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- Title
Paramyotonia congenita due to a de novo mutation: A case report.
- Authors
Takayasu Fukudome; Hajime Izumoto; Hirofumi Goto; Hidenori Matsuo; Toshiro Yoshimura; Shun-Ichi Sakoda; Noritoshi Shibuya
- Abstract
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: 232235, 2003
- Subjects
MYOTONIA congenita; NEUROMUSCULAR diseases; GENETICS; PHYSIOLOGICAL transport of sodium; PHYSIOLOGY
- Publication
Muscle & Nerve, 2003, Vol 28, Issue 2, p232
- ISSN
0148-639X
- Publication type
Article
- DOI
10.1002/mus.10396