Article
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Cell - 18 May 2001
Plaster N M, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson M R, Iannaccone S T, Brunt E, Barohn R, Clark J, Deymeer F, George A L, Fish F A, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony S H, Wolfe G, Fu Y H, Ptácek L J
Abstract excerpt
Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome 17q23 near the inward rectifying potassium channel gene KCNJ2. A missense mutation in KCNJ2 (encoding D71V) was identified in the linked family. Eight additional mutations were identified in unrelated patients. Expression of two of these mutations in Xenopus...
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