Lipodystrophy and muscular dystrophy caused by PTRF mutations.
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.
de Haan
W
W
Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC V5Z4H4, Canada. willeke@cmmt.ubc.ca