title: Paramyotonia congenita due to a de novo mutation: a case report.
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.
authors.affiliation: Department of Neurology, Kawatana National Hospital, 2005-1 Shimogumigo Kawatanamachi Higashisonogi-gun, Nagasaki 859-3615, Japan.
authors.forename: Takayasu
authors.initials: T
authors.lastname: Fukudome
authors.forename: Hajime
authors.initials: H
authors.lastname: Izumoto
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Goto
authors.forename: Hidenori
authors.initials: H
authors.lastname: Matsuo
authors.forename: Toshiro
authors.initials: T
authors.lastname: Yoshimura
authors.forename: Shun-Ichi
authors.initials: S
authors.lastname: Sakoda
authors.forename: Noritoshi
authors.initials: N
authors.lastname: Shibuya
mesh_terms: D000328:Adult; D001483:Base Sequence; D004576:Electromyography; D005080:Exercise Test; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D020967:Myotonic Disorders / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D015222:Sodium Channels / Q000235:genetics
chemical_list: D005819:Genetic Markers; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels