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Article

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Brain : a journal of neurology - 1 Aug 2009

Kollberg Gittan, Tulinius Már, Melberg Atle, Darin Niklas, Andersen Oluf, Holmgren Daniel, Oldfors Anders, Holme Elisabeth

Abstract excerpt

Myopathy with deficiency of succinate dehydrogenase and aconitase is a recessively inherited disorder characterized by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, severe metabolic acidosis and rhabdomyolysis may occur. The disease has so far only been identified in northern Sweden. The clinical,...

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Identifiers

PMID: 19567699
DOI: 10.1093/brain/awp152

Genes

ISCU

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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