CLCN2-related leukoencephalopathy: a case report and review of the literature

BACKGROUND: Loss-of-function mutations in the CLCN2 gene were recently discovered to be a cause of a type of leukodystrophy named CLCN2-related leukoencephalopathy (CC2L), which is characterized by intramyelinic edema. Herein, we report a novel mutation in CLCN2 in an individual with leukodystrophy....

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Detaylı Bibliyografya
Yayımlandı:BMC Neurol
Asıl Yazarlar: Guo, Zhuoxin, Lu, Tingting, Peng, Lisheng, Cheng, Huanhuan, Peng, Fuhua, Li, Jin, Lu, Zhengqi, Chen, Shaoqiong, Qiu, Wei
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2019
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6617604/
https://ncbi.nlm.nih.gov/pubmed/31291907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-019-1390-7
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