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).

References:

[1]. Judith Fischer, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007 Jan;39(1):28-30. [Content Brief]

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