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Article

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Human molecular genetics - 1 Jul 2013

Ajit Bolar Nikhita, Vanlander Arnaud Vincent, Wilbrecht Claudia, Van der Aa Nathalie, Smet Joél, De Paepe Boel, Vandeweyer Geert, Kooy Frank, Eyskens François, De Latter Elien, Delanghe Gwenda, Govaert Paul, Leroy Jules Gerard, Loeys Bart, Lill Roland, Van Laer Lut, Van Coster Rudy

Abstract excerpt

Two siblings from consanguineous parents died perinatally with a condition characterized by generalized hypotonia, respiratory insufficiency, arthrogryposis, microcephaly, congenital brain malformations and hyperglycinemia. Catalytic activities of the mitochondrial respiratory complexes I and II...

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Source

Identifiers

PMID: 23462291
DOI: 10.1093/hmg/ddt107

Genes

IBA57

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23462291-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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