Disorders


 

Myopathy with Deficiency of ISCU


Synonym(s): Iron-Sulfur Cluster Deficiency Myopathy, Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase, Myopathy with Exercise Intolerance, Swedish Type

 

GeneReviewOMIM

GeneLocusProtein
ISCU12q24.1Iron-sulfur cluster assembly enzyme ISCU

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GeneDx - Gaithersburg, MD, USA  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of select exons
• Targeted mutation analysis
  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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