PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0026848|myopathy |
| Sentences | 3 |
| 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- 24362440 | myopathy in marinesco-sjogren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. |
| PubMedID- 24591628 | Here, we identify gain-of-function mutations in the cytoplasmic domain of stim1 (p.r304w) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with stormorken syndrome, and in orai1 (p.p245l), associated with a stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities. |
Page: 1