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. 2023 Aug 30;12(17):2183. doi: 10.3390/cells12172183

Table 3.

The major types of genetic mutation or deletion cause other myopathies with mitochondria phenotypes.

Myopathy Gene of Mutation nDNA/mtDNA Muscle and Mitochondria Phenotypes Reference
dermatomyositis Unknown Increase the proportion of SDH staining positive fiber and Cox staining negative fiber. [188]
Pompe Disease GAA nDNA Short and fragmented mitochondria reduce mitochondria respiration activity and ATP generation. Increase ROS generation. Mitochondria calcium overload. Increase expression of mitochondria dynamic-related protein but reduce mitophagy activity. [189,192]
Metabolic myopathy MIEF2 nDNA Elongated mitochondria, aberrant mitochondrial cristae organization. [190]
Dysferlinopathy DYSF nDNA Decrease complex I, III, and IV protein level and activity, decrease cell ATP level. [191]