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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164861/
https://www.ncbi.nlm.nih.gov/pubmed/33943039
http://dx.doi.org/10.1002/acn3.51371

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