Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
|ClinicalTrials.gov Identifier: NCT01547767|
Recruitment Status : Active, not recruiting
First Posted : March 8, 2012
Last Update Posted : May 23, 2018
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
No Study Results Posted on ClinicalTrials.gov for this Study
|Recruitment Status :||Active, not recruiting|
|Primary Completion Date :||No date given|
|Study Completion Date :||No date given|
Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.
LARSSON LE, LINDERHOLM H, MUELLER R, RINGQVIST T, SOERNAES R. HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS. J Neurol Neurosurg Psychiatry. 1964 Oct;27:361-80.