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

GeneReview OMIM

Gene	Locus	Protein
ISCU	12q24.1	Iron-sulfur cluster assembly enzyme ISCU, mitochondrial

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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.