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Article

Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.

Neuromuscular disorders : NMD - 1 Dec 2009

Kollberg Gittan, Holme Elisabeth

Abstract excerpt

Iron-sulphur cluster deficiency myopathy is caused by a deep intronic mutation in ISCU resulting in inclusion of a cryptic exon in the mature mRNA. ISCU encodes the iron-sulphur cluster assembly protein IscU. Iron-sulphur clusters are essential for most basic redox transformations including the respiratory-chain function. Most patients are homozygous for the mutation with a phenotype characterized by a...

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Source

Identifiers

PMID: 19846308
DOI: 10.1016/j.nmd.2009.09.011

Genes

ISCU

Provenance

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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