Article info
Neurological rarities
Ovarioleukodystrophy due to EIF2B5 mutations
- Correspondence to Dr Richard T Ibitoye, Department of Neurology, Southmead Hospital, Southmead Road, Bristol BS10 5NB, UK; richard.ibitoye{at}cantab.net
Citation
Ovarioleukodystrophy due to EIF2B5 mutations
Publication history
- Accepted August 21, 2016
- First published September 20, 2016.
Online issue publication
February 15, 2017
Article Versions
- Previous version (15 February 2017).
- You are viewing the most recent version of this article.
Request permissions
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Copyright information
Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/
Other content recommended for you
- Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
- Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene
- A practical approach to diagnosing adult onset leukodystrophies
- 096 A 47-year old female with slowly progressive cognitive impairment and motor decline
- Galactosaemia occurring in association with primary ovarian insufficiency, Addison’s disease and chronic myeloid leukaemia
- Non-convulsive status epilepticus causing focal neurological deficits in CADASIL
- Non-convulsive status epilepticus causing focal neurological deficits in CADASIL
- Age-related cerebral white matter disease (leukoaraiosis): a review
- 7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL
- Non-convulsive status epilepticus causing focal neurological deficits in CADASIL