Archives of neurology · 2005
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.
Сравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Hisama Fuki M
Аннотация
BACKGROUND: A family with a complicated constellation of neurologic findings, including neuropathy, myotonia, and periodic paralysis, has been described in 4 studies in the medical literature since 1934. The underlying cause of their disease has been the subject of considerable speculation and has never been identified until now.
OBJECTIVE: To identify the molecular basis of this family's neurologic disease.
DESIGN: The coding regions of 6 genes that cause peripheral neuropathy and regions of the muscle sodium channel gene (SCN4A) were sequenced.
RESULTS: A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease, and a common missense mutation (Thr704Met) was identified in the SCN4A gene in 4 family members. We discuss the difficulties of genotype-phenotype correlation in this family.
CONCLUSIONS: These findings indicate that 2 independent mutations segregating in this family are responsible for the puzzling clinical picture.
OBJECTIVE: To identify the molecular basis of this family's neurologic disease.
DESIGN: The coding regions of 6 genes that cause peripheral neuropathy and regions of the muscle sodium channel gene (SCN4A) were sequenced.
RESULTS: A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease, and a common missense mutation (Thr704Met) was identified in the SCN4A gene in 4 family members. We discuss the difficulties of genotype-phenotype correlation in this family.
CONCLUSIONS: These findings indicate that 2 independent mutations segregating in this family are responsible for the puzzling clinical picture.
Предметные рубрики MeSH
AdolescentCase-Control StudiesCharcot-Marie-Tooth DiseaseDNA Mutational AnalysisFamily HealthFemaleHumansIntracellular Signaling Peptides and ProteinsMaleMiddle AgedModels, MolecularMutationNAV1.4 Voltage-Gated Sodium ChannelParalyses, Familial PeriodicPhosphoproteinsRetrospective StudiesSodium Channels