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

Abstract 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...

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Bibliografski detalji

Glavni autori:	Jiaxi Yu, Xing‐hua Luan, Meng Yu, Wei Zhang, He Lv, Li Cao, Lingchao Meng, Min Zhu, Binbin Zhou, Xiao‐rong Wu, Pidong Li, Qiang Gang, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Sheng Yao, Yun Yuan, Jianwen Deng, Daojun Hong, Zhaoxia Wang
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2021-06-01
Serija:	Annals of Clinical and Translational Neurology
Online pristup:	https://doi.org/10.1002/acn3.51371
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