Article
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.
American journal of medical genetics. Part A - 15 Feb 2006
Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge S P, Quitania L, Kramer J H, Miller B L, Fu Y H, Ptácek L J
Abstract excerpt
Andersen-Tawil syndrome (ATS) is an autosomal dominant multisystem disorder characterized by developmental, cardiac, and neuromuscular abnormalities. Approximately 70% of patients have mutations in KCNJ2, resulting in dysfunction of the inward-rectifying potassium channel Kir2.1. Variable expression complicates the diagnosis of ATS, which in many cases, is not made until years after the first recognized symptom....
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