| 1 | CGL4, PTRF
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| Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
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| Jelani M, Ahmed S, Almramhi MM, Mohamoud HS, Bakur K, Anshasi W, Wang J, Al-Aama JY.
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| Eur J Med Genet 58(4):216-21. doi: 10.1016/j.ejmg.2015.02.002. Epub 2015 Feb 23.
2015
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| 2 | CGL4, PTRF
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| Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
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| Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M.
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| BMC Med Genet 14:89. doi: 10.1186/1471-2350-14-89.
2013
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| 3 | CGL4, PTRF
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| Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
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| Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M.
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| PLoS Genet 6(3):e1000874.
2010
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| 4 | CGL4, PTRF
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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.
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| Dwianingsih EK, Takeshima Y, Itoh K, Yamauchi Y, Awano H, Malueka RG, Nishida A, Ota M, Yagi M, Matsuo M.
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| Mol Genet Metab 101(2-3):233-7. Epub 2010 Jul 1.
2010
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| 5 | CGL4, PTRF
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| Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
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| Shastry S, Delgado MR, Dirik E, Turkmen M, Agarwal AK, Garg A.
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| Am J Med Genet A 152A(9):2245-53. 2010
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