Disease

Mitochondrial Myopathy

About the Disease
Mitochondrial Myopathy, also known as mitochondrial myopathies, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and myopathy, lactic acidosis, and sideroblastic anemia 1, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. An important gene associated with Mitochondrial Myopathy is SLC25A4 (Solute Carrier Family 25 Member 4), and among its related pathways/superpathways are "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins." and Pyrimidine metabolism and related diseases. The drugs Pharmaceutical Solutions and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skeletal muscle, and related phenotype is muscle.

Common Targets
PPIA | ECHS1 | TIMM21 | ME1 | SLC25A4 | TUFM | G4780 | NDUFV1 | LRPPRC | SLC25A26 | KEAP1 | ND1 | CHCHD10 | CYTB | SLC25A42 | PPID | TK1 | PPARD | PNPLA8 | TK2 | FDX2 | NDUFB11 | PC | ISCU | MFN2 | MIEF2 | USP30 | ATP6 | TRNK | BOLA3 | ETFA | TRNL1 | TIMM22 | TRNM | COQ4 | MFN1 | YARS2 | NF-kappaB (NFkB)

疾病靶点研报
Mitochondrial Myopathy

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