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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease lipodystrophy
Comorbidity C0026850|muscular dystrophy
Sentences 4
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).
PubMedID- 24375490 Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin.

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