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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0268238|neutral lipid storage disease
Sentences 15
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- 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- 21073837 A novel pnpla2 mutation causes neutral lipid storage disease with myopathy (nlsdm) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.
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- 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- 24836204 Mutations in pnpla2 cause neutral lipid storage disease with myopathy (nlsdm) or triglyceride deposit cardiomyovasculopathy (tgcv).
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- 20471263 Sequencing of pnpla2, the gene responsible for neutral lipid storage disease with myopathy (nlsdm), revealed a retrotransposal insertion of about 1.8kb in exon 3 that abrogates transcription of pnpla2.
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- 25363365 Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1g>a.
PubMedID- 25956450 Novel missense mutations in pnpla2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.
PubMedID- 26508640 In humans, atgl deficiency causes neutral lipid storage disease with myopathy (nlsdm) characterized by a systemic tg accumulation.
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- 22832386 neutral lipid storage disease with myopathy (nlsdm) referred to those neutral lipid storage disease (nlsd) patients with myopathy but without ichthyosis.

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