Article
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
Neurology - 10 Jun 2003
Donaldson M R, Jensen J L, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez W A, Cobo A M, Poza J J, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar D M, Fu Y-H, Ptácek L J
Abstract excerpt
BACKGROUND: Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of Andersen-Tawil syndrome (ATS; also known as Andersen syndrome). Although pathogenic mechanisms have been proposed for select mutations, a common mechanism has not been identified. METHODS: Seventeen probands presenting with symptoms characteristic of ATS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.