An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1) gene causes ADLD. In this study, we undertook a comprehens...

Descripción completa

Detalles Bibliográficos
Autores principales: Dai, Yi, Ma, Yaling, Li, Shengde, Banerjee, Santasree, Liang, Shengran, Liu, Qing, Yang, Yinchang, Peng, Bin, Cui, Liying, Jin, Liri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513940/
https://www.ncbi.nlm.nih.gov/pubmed/28769756
http://dx.doi.org/10.3389/fnmol.2017.00215

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513940/
https://www.ncbi.nlm.nih.gov/pubmed/28769756
http://dx.doi.org/10.3389/fnmol.2017.00215

Ejemplares similares