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  3. Neutral lipid storage disease with myopathy

Neutral lipid storage disease with myopathy

Definition

Neutral lipid storage disease (NLSD) comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSD, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2).

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。
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