Article
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
Proceedings of the National Academy of Sciences of the United States of America - 31 Jan 2006
Haghighi Kobra, Kolokathis Fotis, Gramolini Anthony O, Waggoner Jason R, Pater Luke, Lynch Roy A, Fan Guo-Chang, Tsiapras Dimitris, Parekh Rohan R, Dorn Gerald W, MacLennan David H, Kremastinos Dimitrios Th, Kranias Evangelia G
Abstract excerpt
The sarcoplasmic reticulum Ca(2+)-cycling proteins are key regulators of cardiac contractility, and alterations in sarcoplasmic reticulum Ca(2+)-cycling properties have been shown to be causal of familial cardiomyopathies. Through genetic screening of dilated cardiomyopathy patients, we identified a previously uncharacterized deletion of arginine 14 (PLN-R14Del) in the coding region of the phospholamban (PLN)...
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