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A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

✍ Scribed by Proks, Peter (author);Girard, Christophe (author);Haider, Shozeb (author);Gloyn, Anna L. (author);Hattersley, Andrew T. (author);Sansom, Mark S.P. (author);Ashcroft, Frances M. (author)

Book ID
110032746
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
273 KB
Volume
6
Category
Article
ISSN
1469-221X

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## Abstract We report on a 25‐year‐old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe