POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review

Polymerase gamma (POLG) is an enzyme responsible for the replication and repair of mitochondrial DNA. Mutations in POLG may cause variable clinical manifestations, including parkinsonism, epilepsy, cerebellar ataxia, neuropathy, and progressive external ophthalmoplegia. However, mutations of this ge...

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Detalles Bibliográficos
Autores principales: Hsieh, Pei‐Chen, Wang, Chun‐Chieh, Tsai, Chia‐Lung, Yeh, Yuan‐Ming, Lee, Yun Shien, Wu, Yih‐Ru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520296/
https://www.ncbi.nlm.nih.gov/pubmed/30941926
http://dx.doi.org/10.1002/brb3.1281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520296/
https://www.ncbi.nlm.nih.gov/pubmed/30941926
http://dx.doi.org/10.1002/brb3.1281

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