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Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP‐related multisystem proteinopathy

OBJECTIVE: The objective of this research was to study the clinical features, genetic characteristics, muscle imaging, and muscle pathological changes of a cohort of Chinese patients with mutations in the valosin‐containing protein (VCP) gene. METHODS: Nine patients from seven Chinese pedigrees were...

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Detalles Bibliográficos
Autores principales: Wan, Yalan, Wang, Qi, Zheng, Yiming, Yu, Meng, Xie, Zhiying, Ling, Chen, Meng, Lingchao, Yu, Jiaxi, Zheng, Yilei, Wang, Yikang, Zhang, Wenhao, Liu, Chang, Zhao, Yawen, Yuan, Yun, Deng, Jianwen, Gang, Qiang, Wang, Zhaoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337278/
https://www.ncbi.nlm.nih.gov/pubmed/37002192
http://dx.doi.org/10.1002/mgg3.2176