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Browse result for Neutral lipid storage myopathy
※ introduction Neutral lipid storage disease (also known as Chanarin¨CDorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordans' anomaly), muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin¨CDorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling.
It has been associated genetically with mutations in the CGI-58 gene (for NLSD-I) or the ATGL/PNPLA2 gene (for NLSD-M).
Reference
Wiki: Neutral lipid storage myopathy
Reference
Wiki: Neutral lipid storage myopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD10982 | Q96AD5 | 57104 | PNPLA2 | Patatin-like phospholipase domain-containing protein 2 | Homo sapiens |
