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Entry Name Description Category Pathway Gene
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]
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