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

ConclusionOur finding of novel variants expanded the mutational spectrum of theVCP gene. This cohort of Chinese patients withVCP mutations mainly present with inclusion body myopathy with predominant limb –girdle distribution. The characteristic pattern of fatty infiltration, especially the “isolated island” and “contra-isolated island” on muscle MRI, along with rimmed vacuoles in muscle biopsy, provides valuable clues for guiding genetic diagnostic workup.

Source: Molecular Genetics & Genomic Medicine - April 1, 2023 Category: Genetics & Stem Cells Authors: Yalan Wan, Qi Wang, Yiming Zheng, Meng Yu, Zhiying Xie, Chen Ling, Lingchao Meng, Jiaxi Yu, Yilei Zheng, Yikang Wang, Wenhao Zhang, Chang Liu, Yawen Zhao, Yun Yuan, Jianwen Deng, Qiang Gang, Zhaoxia Wang Tags: ORIGINAL ARTICLE Source Type: research