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A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

Dwianingsih EK, Takeshima Y, Itoh K, Yamauchi Y, Awano H, Malueka RG, Nishida A, Ota M, Yagi M, Matsuo M. A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):233-7.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.