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Article

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

BMC medical genetics - 2 Aug 2012

Almind Gitte J, Ek Jakob, Rosenberg Thomas, Eiberg Hans, Larsen Michael, Lucamp Lucamp, Brøndum-Nielsen Karen, Grønskov Karen

Abstract excerpt

BACKGROUND: Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. METHODS: Index patients from 93 unrelated ADOA families were assessed for a common Danish founder mutation (c.2826_2836delinsGGATGCTCCA) inOPA1. If negative, direct DNA sequencing of the coding sequence and multiplex ligation-dependent probe amplification (MLPA) were performed. Results from MLPA analysis...

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Source

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Identifiers

PMID: 22857269
DOI: 10.1186/1471-2350-13-65
PMCID: PMC3507804

Genes

OPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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