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Entry | Name | Description | Category | Pathway | Gene |
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H00898 |
Myopathy with lactic acidosis and sideroblastic anaemia Mitochondrial myopathy and sideroblastic anemia Hereditary myopathy with lactic acidosis (HML) |
... compartments. Recently, it has been reported that a mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, also causes MLASA. Myopathy with succinate dehydrogenase and aconitase deficiency has been found ... | Inherited metabolic disorder |
(MLASA1) PUS1 [HSA:80324] [KO:K06173] (MLASA2) YARS2 [HSA:51067] [KO:K01866] (HML) ISCU [HSA:23479] [KO:K22068] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |