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

Authors :: Mochel, Fanny
Knight, Melanie A.
Wing-Hang Tong
Hernandez, Dena;
Ayyad, Karen
Taivassalo, Tanja
Andersen, Peter M.
Singleton, Andrew
Raouault, Tracey A.
Fischbeck, Kenneth H.
Haller, Ronald G.
Source :: American Journal of Human Genetics. March, 2008, Vol. 82 Issue 3, p652, 660 p.
Publication Year :: 2008
Abstract: The splice mutation in the iron-sulfur cluster scaffold protein ISCU is found to cause myopathy with exercise intolerance in patients. The other human diseases that are caused by the defects in iron-sulfur cluster biogenesis are also investigated.

Subjects :: DNA microarrays -- Analysis
Iron proteins -- Genetic aspects
Iron proteins -- Health aspects
Muscle diseases -- Causes of
RNA processing -- Analysis
Biological sciences

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