Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

Biallelic pathogenic variants in PRKN (PARK2), encoding the E3 ubiquitin ligase parkin, lead to early-onset Parkinson's disease. Structural variants, including duplications or deletions, are common in PRKN due to their location within the fragile site FRA6E. These variants are readily detectabl...

Descripción completa

Detalles Bibliográficos
Autores principales: Mor-Shaked, Hagar, Paz-Ebstein, Emuna, Basal, Adily, Ben-Haim, Simona, Grobe, Hanna, Heymann, Sami, Israel, Zvi, Namnah, Montaser, Nitzan, Anat, Rosenbluh, Chaggai, Saada, Ann, Tzur, Tomer, Yanovsky-Dagan, Shira, Zaidel-Bar, Ronen, Harel, Tamar, Arkadir, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421701/
https://www.ncbi.nlm.nih.gov/pubmed/34514401
http://dx.doi.org/10.1093/braincomms/fcab197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421701/
https://www.ncbi.nlm.nih.gov/pubmed/34514401
http://dx.doi.org/10.1093/braincomms/fcab197

Ejemplares similares