PedAM

Pediatric Disease Annotations & Medicines

Disease	lipid storage disease
Phenotype	C0026848\|myopathy
Sentences	21
PubMedID- 22491199	Objective: to determine whether impaired exercise capacity in neutral lipid storage disease with myopathy is solely caused by muscle weakness or whether a defect in energy metabolism (blocked fat oxidation) may also play a role.
PubMedID- 26508640	In humans, atgl deficiency causes neutral lipid storage disease with myopathy (nlsdm) characterized by a systemic tg accumulation.
PubMedID- 25363365	Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1g>a.
PubMedID- 22405066	In humans, atgl-deficiency leads to neutral lipid storage disease with myopathy (nlsdm), with a similar lipid phenotype as observed in atgl-deficient mice (fischer et al., 2007).
PubMedID- 25956450	Novel missense mutations in pnpla2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.
PubMedID- 21087632	The group of fischer [14] elucidated the molecular basis of this rare inherited disease annotated as “neutral lipid storage disease with myopathy (nlsdm)”.
PubMedID- 22832386	Neutral lipid storage disease with myopathy (nlsdm) referred to those neutral lipid storage disease (nlsd) patients with myopathy but without ichthyosis.
PubMedID- 21122093	The atgl gene (alias pnpla2) has been identified as the causative gene for the neutral lipid storage disease with myopathy without ichthyosis (nlsdm) [18].
PubMedID- 21073837	Neutral lipid storage disease with myopathy (nlsdm) is a type of lipid storage myopathy arising due to a mutation in the pnpla2 gene encoding an adipose triglyceride lipase responsible for the degradation of intracellular triglycerides.
PubMedID- 24124410	Exon 3 of the pnpla2 gene was interrupted by a 1.8-kb sva-f insertion, which causes lipid storage disease with subclinical myopathy [32], while an sva-f element inserted in intron 1 of the arh gene causes hypercholesterolemia [33].
PubMedID- 22990388	The lack of adipose triglyceride lipase (atgl), a patatin-like phospholipase domain-containing enzyme that hydrolyzes fatty acids from triacylglycerol (tag) stored in multiple tissues, causes the autosomal recessive disorder neutral lipid storage disease with myopathy (nlsd-m).
PubMedID- 23824421	Patients: three patients affected by neutral lipid storage disease with myopathy (nlsdm) due to homozygosity for loss-of-function mutations in the atgl gene and 6 sex-, age-, and body mass index-matched controls were studied.
PubMedID- 25512002	Although other ipla2 -related diseases have been identified, namely, infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy, this is the first report of pnpla8-related disease in a human.
PubMedID- 21196579	Similarly, a mutation in the human atgl gene was found to cause neutral lipid storage disease with myopathy (18); notably, the same mutation was observed in a patient who underwent cardiac transplantation because of cardiomyopathy (19).
PubMedID- 20370797	Genetic studies were performed to detect mutations in the slc22a5 for primary carnitine deficiency, pnpla2 for neutral lipid storage disease with myopathy, hd5 for neutral lipid storage disease with ichthyosis, etfdh for multiple acyl-coa dehydrogenation deficiency (madd), and cpt2 for carnitine palmitoyltransferase ii deficiency.
PubMedID- 22964912	Objective: to report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in pnpla2.
PubMedID- 20471263	Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the pnpla2 gene.
PubMedID- 24836204	Mutations in pnpla2 cause neutral lipid storage disease with myopathy (nlsdm) or triglyceride deposit cardiomyovasculopathy (tgcv).
PubMedID- 23146629	Sequencing pnpla2, the gene encoding the adipose triglyceride lipase (atgl) and responsible for the neutral lipid storage disease with myopathy (nlsdm), we identified two heterozygous mutations, including a previously reported nonsense and a novel missense mutation in the patatin domain of the gene.
PubMedID- 23333026	Neutral lipid storage disease with myopathy (nlsdm) is caused by a mutation in the gene encoding adipose triglyceride lipase (atgl), and is characterized by the presence of numerous triglyceride-containing cytoplasmic droplets in type i muscle fibers.
PubMedID- 24360150	Adipose triglyceride lipase (atgl) deficiency causes the onset of neutral lipid storage disease with myopathy (nlsdm), a rare genetic disorder which is transmitted as an autosomal recessive trait [1,2].

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