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Updated: Sep 23, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Paramyotonia congenita due to a de novo mutation: a case report
Takayasu Fukudome1, Hajime Izumoto, Hirofumi Goto
1Department of Neurology, Kawatana National Hospital, 2005-1 Shimogumigo Kawatanamachi Higashisonogi-gun, Nagasaki 859-3615, Japan.
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.
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