Yan Lin, Jiayin Wang, Hong Ren, Xiaotian Ma, Wei Wang, Ying Zhao, Zhihong Xu, Shuangwu Liu, Wenqing Wang, Xuebi Xu, Bin Wang, Dandan Zhao, Dongdong Wang, Wei Li, Fuchen Liu, Yuying Zhao, Jianqiang Lu, Chuanzhu Yan, Kunqian Ji
OBJECTIVE: Mitochondrial myopathy without extraocular muscles involvement (MiMy) represents a distinct form of mitochondrial disorder predominantly affecting proximal/distal or axial muscles, with its phenotypic, genotypic features, and long-term prognosis poorly understood. METHODS: A cross-sectional study conducted at a national diagnostic center for mitochondrial disease involved 47 MiMy patients, from a cohort of 643 mitochondrial disease cases followed up at Qilu Hospital from January 1, 2000, to January 1, 2021...
October 17, 2023: Journal of Neurology