Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

‘Behr syndrome’ with OPA1 compound heterozygote mutations

21 Aug 2014

Abstract excerpt

Sir, We have been following with great interest the developments in the field of phenotypic diversity associated with mutations in the OPA1 gene, having contributed to describe the DOA ‘plus’ phenotype in a joint effort with other groups (Amati-Bonneau et al., 2008; Hudson et al., 2008; Yu-Wai-Mann et al., 2010). A developing story concerns the increasingly recognized cases associated with OPA1 mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP Synthase and ATPases Research
Share to Lysosomal Storage Disorders Research
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25146916
DOI: 10.1093/brain/awu234

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

‘Behr syndrome’ with OPA1 compound heterozygote mutationsPMID 25146916Read ↗

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.Semantic proximity Read ↗

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.Semantic proximity Read ↗

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

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.Semantic proximity Read ↗

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.Semantic proximity Read ↗

Multi-system neurological disease is common in patients with OPA1 mutations.Semantic proximity Read ↗

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.Semantic proximity Read ↗

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.Semantic proximity Read ↗

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.Semantic proximity Read ↗

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.Semantic proximity Read ↗

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.Semantic proximity Read ↗

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.