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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...
Autores principales: | Dai, Yi, Ma, Yaling, Li, Shengde, Banerjee, Santasree, Liang, Shengran, Liu, Qing, Yang, Yinchang, Peng, Bin, Cui, Liying, Jin, Liri |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2017
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Materias: | |
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 |
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