PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema

We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. In addition, she had hypoalbuminemia and m...

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Detalles Bibliográficos
Autores principales: Tzoulis, C., Sztromwasser, Paweł, Johansson, Stefan, Gjerde, Ivar Otto, Knappskog, Per, Bindoff, L. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243888/
https://www.ncbi.nlm.nih.gov/pubmed/27165045
http://dx.doi.org/10.1007/s12311-016-0784-y

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