Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report

BACKGROUND: Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson’s Disease (EOPD). PINK1 mutations are the second commonest cause of EOPD. Specific mutations may be relatively common in certain population...

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Detalles Bibliográficos
Autores principales: Norman, Brendan P., Lubbe, Steven J., Tan, Manuela, Warren, Naomi, Morris, Huw R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5549325/
https://www.ncbi.nlm.nih.gov/pubmed/28789629
http://dx.doi.org/10.1186/s12883-017-0933-z

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