GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

BACKGROUND: The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy. This study aimed to report patients with distal weakness with both ne...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Ann Clin Transl Neurol
Main Authors: Yu, Jiaxi, Luan, Xing‐hua, Yu, Meng, Zhang, Wei, Lv, He, Cao, Li, Meng, Lingchao, Zhu, Min, Zhou, Binbin, Wu, Xiao‐rong, Li, Pidong, Gang, Qiang, Liu, Jing, Shi, Xin, Liang, Wei, Jia, Zhirong, Yao, Sheng, Yuan, Yun, Deng, Jianwen, Hong, Daojun, Wang, Zhaoxia
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2021
Teme:
Research Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8164861/
https://ncbi.nlm.nih.gov/pubmed/33943039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51371
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