A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

doi:10.1097/MD.0000000000023026

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Article

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

Medicine - 30 Oct 2020

Liu Xuncan, Zhang Yanfeng, Liang Jianmin, Yang Si, Chen Chen

Abstract excerpt

RATIONALE: The ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene is located on chromosome 2 (2q35) and encodes an ATPase that is associated with various cellular activities and is embedded in the mitochondrial inner membrane; this ATPase is presumed to facilitate the insertion of the Rieske Fe/S protein into precursors of Complex III (CIII) during the assembly of the respiratory chain. We report the...

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PMID: 33126389
DOI: 10.1097/MD.0000000000023026
PMCID: PMC7598881

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.