Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

OBJECTIVE: To identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and abnormal eye movements, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of Perrault syndrome. METHODS: Whole-exome sequencing was performed to...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Morino, Hiroyuki, Pierce, Sarah B., Matsuda, Yukiko, Walsh, Tom, Ohsawa, Ryosuke, Newby, Marta, Hiraki-Kamon, Keiko, Kuramochi, Masahito, Lee, Ming K., Klevit, Rachel E., Martin, Alan, Maruyama, Hirofumi, King, Mary-Claire, Kawakami, Hideshi
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4248451/
https://ncbi.nlm.nih.gov/pubmed/25355836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001036
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