Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Neutral lipid storage disease with myopathy

Triglyceride storage disease with myopathy is an autosomal recessive disorder caused by mutations of the PNPLA2 gene.

Systematic

Neutral lipid storage disease
Neutral lipid storage disease with ichtiosis
Neutral lipid storage disease with myopathy
PNPLA2

References:

1.

Fischer J et. al. (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

[^]
2.

Akiyama M et. al. (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

[^]
3.

Reilich P et. al. (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

[^]
4.

Lin P et. al. (2012) Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

[^]
5.

Janssen MC et. al. (2013) Symptomatic lipid storage in carriers for the PNPLA2 gene.

[^]
Update: Sept. 26, 2018