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

A myopathy with severe exercise intolerance and myoglobinuria has been described in patients from northern Sweden, with associated deficiencies of succinate dehydrogenase and aconitase in skeletal muscle. We identified the gene for the iron-sulfur cluster scaffold protein ISCU as a candidate within...

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Auteurs principaux: Mochel, Fanny, Knight, Melanie A., Tong, Wing-Hang, Hernandez, Dena, Ayyad, Karen, Taivassalo, Tanja, Andersen, Peter M., Singleton, Andrew, Rouault, Tracey A., Fischbeck, Kenneth H., Haller, Ronald G.
Format: Artigo
Langue:Inglês
Publié: American Society of Human Genetics 2008
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427212/
https://ncbi.nlm.nih.gov/pubmed/18304497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.12.012
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