Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

BACKGROUND: Paroxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement, inherited as an autosomal dominant trait with incomplete penetrance. A PKC locus has been previously mapped to the pericentromeric region of chromosome 16 (16p11.2-q12.1)...

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Detalles Bibliográficos
Autores principales: Li, Jingyun, Zhu, Xilin, Wang, Xin, Sun, Wei, Feng, Bing, Du, Te, Sun, Bei, Niu, Fenghe, Wei, Hua, Wu, Xiaopan, Dong, Lei, Li, Liping, Cai, Xingqiu, Wang, Yuping, Liu, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2011
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261727/
https://www.ncbi.nlm.nih.gov/pubmed/22131361
http://dx.doi.org/10.1136/jmedgenet-2011-100635

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261727/
https://www.ncbi.nlm.nih.gov/pubmed/22131361
http://dx.doi.org/10.1136/jmedgenet-2011-100635

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