Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.

Yan LinJiayin WangHong RenXiaotian MaWei WangYing ZhaoZhihong XuShuangwu LiuWenqing WangXuebi XuBin WangDandan ZhaoDongdong WangWei LiFuchen LiuYuying ZhaoJianqiang LuChuanzhu YanKunqian Ji

Published in: Journal of neurology (2023)

This study provides a comprehensive profile of MiMy through a large patient cohort, elucidating its unique clinical, genetic, and pathological features. These findings offer significant insights into the diagnostic and therapeutic management of MiMy, ultimately aiming to ameliorate patient outcomes and enhance the quality of life.

Keyphrases

oxidative stress
skeletal muscle
genome wide
gene expression
copy number
dna methylation
muscular dystrophy
early onset