Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

OBJECTIVE: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment. METHODS: Whole-exome sequencing was performed on index patients fro...

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Detalles Bibliográficos
Autores principales: Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944/
https://www.ncbi.nlm.nih.gov/pubmed/31192300
http://dx.doi.org/10.1212/NXG.0000000000000316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944/
https://www.ncbi.nlm.nih.gov/pubmed/31192300
http://dx.doi.org/10.1212/NXG.0000000000000316

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