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Entry Name Description Category Pathway Gene
H01297 Neutral lipid storage disease with myopathy ... cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSDM, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2). Inherited metabolic disorder PNPLA2 [HSA:57104] [KO:K16816]
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