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PedAM

Pediatric Disease Annotations & Medicines




Disease muscular dystrophy
Phenotype C0221032|generalized lipodystrophy
Sentences 3
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- 23489663 Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
PubMedID- 20447152 Human ptrf mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy hayashi et al.

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