A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family w...
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
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Publisher
London: BioMed Central Ltd
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Language
English
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Publisher
London: BioMed Central Ltd
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Contents
Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in
OPA1
represent the most common genetic cause of ADOA, a significant number of cases remain undiagnosed.
Here, we describe a family with a strong ADOA history with most famil...
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Full title
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
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TN_cdi_doaj_primary_oai_doaj_org_article_10706826b7434e968105f1c716e20d3f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_10706826b7434e968105f1c716e20d3f
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ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/s40478-020-00975-w
