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Article

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Brain : a journal of neurology - 1 Oct 2014

Bonneau Dominique, Colin Estelle, Oca Florine, Ferré Marc, Chevrollier Arnaud, Guéguen Naïg, Desquiret-Dumas Valérie, N'Guyen Sylvie, Barth Magalie, Zanlonghi Xavier, Rio Marlène, Desguerre Isabelle, Barnerias Christine, Momtchilova Marta, Rodriguez Diana, Slama Abdelhamid, Lenaers Guy, Procaccio Vincent, Amati-Bonneau Patrizia, Reynier Pascal

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Source

Identifiers

PMID: 25012220
DOI: 10.1093/brain/awu184

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.PMID 25012220Read ↗

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Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.Semantic proximity Read ↗

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.Semantic proximity Read ↗

Different phenotypes identified for Behçet syndrome.Semantic proximity Read ↗

Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.Semantic proximity Read ↗

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.Semantic proximity Read ↗

‘Behr syndrome’ with OPA1 compound heterozygote mutationsSemantic proximity Read ↗

Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.Semantic proximity Read ↗

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.Semantic proximity Read ↗

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