Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

Fanny Mochel, Melanie A. Knight, Wing Hang Tong, Dena Hernandez, Karen Ayyad, Tanja Taivassalo, Peter M. Andersen, Andrew Singleton, Tracey A. Rouault, Kenneth H. Fischbeck, Ronald G. Haller

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183 Scopus citations

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Medicine & Life Sciences