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Article

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Biochimica et biophysica acta - 1 Jun 2010

Sanaker Petter S, Toompuu Marina, Hogan Vanessa E, He Langping, Tzoulis Charalampos, Chrzanowska-Lightowlers Zofia M A, Taylor Robert W, Bindoff Laurence A

Abstract excerpt

Hereditary myopathy with lactic acidosis, or myopathy with exercise intolerance, Swedish type (OMIM #255125) is caused by mutations in the iron-sulfur cluster scaffold (ISCU) gene. The g.7044G>C ISCU mutation induces a splicing error in the pre-mRNA that strengthens a weak intronic splice site le...

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Source

Identifiers

PMID: 20206689
DOI: 10.1016/j.bbadis.2010.02.010

Genes

ISCU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20206689-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.PMID 20206689Read ↗

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