PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0268238|neutral lipid storage disease |
| Sentences | 15 |
| 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- 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- 22832386 | neutral lipid storage disease with myopathy (nlsdm) referred to those neutral lipid storage disease (nlsd) patients with myopathy but without ichthyosis. |
| 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- 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- 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- 25956450 | neutral lipid storage disease with myopathy (nlsd-m) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic lipid droplets (lds). |
| PubMedID- 25363365 | Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1g>a. |
| PubMedID- 26508640 | In humans, atgl deficiency causes neutral lipid storage disease with myopathy (nlsdm) characterized by a systemic tg accumulation. |
| 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- 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- 24836204 | A novel mutation in pnpla2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. |
| 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- 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. |
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