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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease chanarin-dorfman syndrome
Comorbidity C0026848|myopathy
Sentences 21
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- 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].
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- 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- 20676808 Among the disorders of lipid metabolism, mutations in the genes encoding two triglyceride lipases acting hand in hand cause severe generalized lipid storage myopathy, one associated with ichthyosis (chanarin-dorfman syndrome), the other dominated by juvenile-onset weakness.
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- 21073837 A novel pnpla2 mutation causes neutral lipid storage disease with myopathy (nlsdm) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.
PubMedID- 25956450 Novel missense mutations in pnpla2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.
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- 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- 22491199 Conclusions: these results demonstrate that in addition to fixed weakness, neutral lipid storage disease with myopathy is also characterized by a profound block in fat oxidation, which limits exercise tolerance.
PubMedID- 22832386 neutral lipid storage disease with myopathy (nlsdm) referred to those neutral lipid storage disease (nlsd) patients with myopathy but without ichthyosis.
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- 25363365 Muscle mri in neutral lipid storage disease with myopathy carrying mutation c.187+1g>a.
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- 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- 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- 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- 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).

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