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Clin Genet. 2010 May;77(5):436-7. doi: 10.1111/j.1399-0004.2009.01365_3.x.

Lipodystrophy and muscular dystrophy caused by PTRF mutations.

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1
Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC V5Z4H4, Canada. willeke@cmmt.ubc.ca

Abstract

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy Hayashi et al. (2009) The Journal of Clinical Investigation 119: 2623-2633.

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