eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | berardinelli-seip congenital lipodystrophy |
| Comorbidity | C0026850|muscular dystrophy |
| Sentences | 3 |
| PubMedID- 20447152 | Human ptrf mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy hayashi et al. |
| PubMedID- 23489663 | congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. |
| PubMedID- 21119217 | In humans loss of ptrf-cavin also causes a secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy (42, 43). |
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