Table 3.
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] |