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Article

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

American journal of human genetics - 1 Mar 2008

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

Abstract excerpt

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 with...

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Identifiers

PMID: 18304497
DOI: 10.1016/j.ajhg.2007.12.012
PMCID: PMC2427212

Genes

ISCU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18304497-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.PMID 18304497Read ↗

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.Semantic proximity Read ↗

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.Semantic proximity Read ↗

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.Semantic proximity Read ↗

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.Semantic proximity Read ↗

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1.Semantic proximity Read ↗

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Mitochondrial iron-sulfur protein biogenesis and human disease.Semantic proximity Read ↗

Homozygous c.259G>A variant in <i>ISCA1</i> is associated with a new multiple mitochondrial dysfunctions syndromeSemantic proximity Read ↗

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