Video Upload Options

References

1. Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A noveldominant mutation in plakoglobin causes arrhythmogenic right ventricularcardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73.
2. Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R,Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrathJA, South AP. Homozygous mutations in the 5' region of the JUP gene result incutaneous disease but normal heart development in children. J Invest Dermatol.2010 Jun;130(6):1543-50. doi: 10.1038/jid.2010.7.
3. Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M.Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by aJUP mutation. Br J Dermatol. 2011 Oct;165(4):917-21. doi:10.1111/j.1365-2133.2011.10455.x.
4. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A,Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion inplakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun17;355(9221):2119-24.
5. Pigors M, Kiritsi D, Krümpelmann S, Wagner N, He Y, Podda M, Kohlhase J,Hausser I, Bruckner-Tuderman L, Has C. Lack of plakoglobin leads to lethalcongenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064.
6. Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, StratosK, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W,Toutouzas P. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion inplakoglobin. J Am Coll Cardiol. 2001 Nov 1;38(5):1477-84.