PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0162666|mitochondrial encephalomyopathy |
| Sentences | 1 |
| PubMedID- 25713290 | Several human and rodent models of skeletal muscle mitochondrial myopathy, including mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (melas syndrome), progressive external ophthalmoplegia, and the deletor mouse, also show a similar response with upregulation of the same genes.34–36 the promoter regions of the amino acid responsive genes contain consensus sequences for the conserved amino acid response element (aare); thus, because both asns and mthfd2 are involved in amino acid synthesis, it is likely that an increased reliance on amino acids for energy initiates this response. |
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