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Entry Name Description Category Pathway Gene
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]
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