Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

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Published in Am J Hum Genet on February 14, 2008

Authors

Fanny Mochel1, 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

Author Affiliations

1: Developmental and Metabolic Neurology Branch, NINDS, NIH, Bethesda, MD 20892, USA. mochelf@ninds.nih.gov

Associated clinical trials:

Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy | NCT01547767

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