Condition: Neutral Lipid Storage Disease with Myopathy
rs869320738 in
CRACR2B;PNPLA2 gene and
Neutral Lipid Storage Disease with Myopathy
PMID 28499397 2017 Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
PMID 22832386 2012 Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
rs121918259 in
PNPLA2 gene and
Neutral Lipid Storage Disease with Myopathy
PMID 22990388 2012 Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
PMID 23449549 2013 Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.
PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
PMID 21544567 2011 The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
PMID 18445597 2008 The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding.
rs796065303 in
PNPLA2;CRACR2B gene and
Neutral Lipid Storage Disease with Myopathy
PMID 23449549 2013 Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy.
PMID 23232698 2013 Symptomatic lipid storage in carriers for the PNPLA2 gene.
PMID 17187067 2007 The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.