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Article

Behr syndrome with homozygous C19ORF12 mutation.

Journal of the neurological sciences - 15 Oct 2015

Kleffner Ilka, Wessling Caroline, Gess Burkhard, Korsukewitz Catharina, Allkemper Thomas, Schirmacher Anja, Young Peter, Senderek Jan, Husstedt Ingo W

Abstract excerpt

OBJECTIVE: Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and mental retardation. Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder. METHODS: We present the...

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Source

Identifiers

PMID: 26187298
DOI: 10.1016/j.jns.2015.07.009

Genes

OPA1
OPA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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