Andersen-Tawil syndrome classification: Difference between revisions
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Revision as of 20:40, 14 March 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Charmaine Patel, M.D. [2]; Raviteja Guddeti, M.B.B.S. [3]
Classification
Two types of Andersen-Tawil syndrome are distinguished by their genetic causes.
- Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the KCNJ2 gene. [1][2]
- The remaining 40 percent of cases are designated as type 2; the cause of the condition in these cases is unknown.
References
- ↑ Tristani-Firouzi M, Jensen JL, Donaldson MR; et al. (2002). "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)". J. Clin. Invest. 110 (3): 381–8. PMID 12163457.
- ↑ Pegan S, Arrabit C, Slesinger PA, Choe S (2006). "Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1". Biochemistry. 45 (28): 8599–606. doi:10.1021/bi060653d. PMID 16834334.