The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

OBJECTIVE: To identify the causal gene in a multi-incident U.S. kindred with Parkinson’s disease (PD). METHODS: We characterized a family with a classical PD phenotype in which 7 individuals (5 males and 2 females) were affected with a mean age at onset of 46.1 years (range, 29-57 years). We perform...

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Detalles Bibliográficos
Autores principales: Mata, Ignacio F., Jang, Yongwoo, Kim, Chun-Hyung, Hanna, David S., Dorschner, Michael O., Samii, Ali, Agarwal, Pinky, Roberts, John W., Klepitskaya, Olga, Shprecher, David R., Chung, Kathryn A., Factor, Stewart A., Espay, Alberto J., Revilla, Fredy J., Higgins, Donald S., Litvan, Irene, Leverenz, James B., Yearout, Dora, Inca-Martinez, Miguel, Martinez, Erica, Thompson, Tiffany R., Cholerton, Brenna A., Hu, Shu-Ching, Edwards, Karen L., Kim, Kwang-Soo, Zabetian, Cyrus P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581468/
https://www.ncbi.nlm.nih.gov/pubmed/26399558
http://dx.doi.org/10.1186/s13024-015-0045-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581468/
https://www.ncbi.nlm.nih.gov/pubmed/26399558
http://dx.doi.org/10.1186/s13024-015-0045-4

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