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

CONCLUSION: Our finding of novel variants expanded the mutational spectrum of the VCP gene. This cohort of Chinese patients with VCP 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.PMID:37002192 | DOI:10.1002/mgg3.2176

Source: Molecular Medicine - March 31, 2023 Category: Molecular Biology 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 Source Type: research