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Entry | Name | Description | Category | Pathway | Gene |
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H02701 | Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression | ... regression (MECREN) is a novel form of mitochondrial myopathy. It has been reported that mutations in SLC25A42 cause this disease. SLC25A42 gene encodes an inner mitochondrial membrane protein that imports ... | Inherited metabolic disorder, Mitochondrial disease | SLC25A42 [HSA:284439] [KO:K15085] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |