Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson's disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and possible mutations in PD-related genes were not...

Descripción completa

Detalles Bibliográficos
Autores principales: Gambardella, Stefano, Ferese, Rosangela, Scala, Simona, Carboni, Stefania, Biagioni, Francesca, Emiliano, Giardina, Zampatti, Stefania, Modugno, Nicola, Fabbiano, Francesco, Fornai, Francesco, Centonze, Diego, Ruggieri, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032645/
https://www.ncbi.nlm.nih.gov/pubmed/30034773
http://dx.doi.org/10.1155/2018/5651435

Ejemplares similares

Ejemplares similares