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Entry | Name | Description | Category | Pathway | Gene |
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H02201 | Mitochondrial myopathy with lactic acidosis | ... with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function mutations in PNPLA8 encoding calcium-independent phospholipase A2 gamma cause this disease. | Inherited metabolic disorder | PNPLA8 [HSA:50640] [KO:K16815] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |