Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. Issue 2 (26th November 2014)
- Record Type:
- Journal Article
- Title:
- Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. Issue 2 (26th November 2014)
- Main Title:
- Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
- Authors:
- Shariati, Gholamreza
Hamid, Mohammad
Saberi, Alihossein
Andashti, Behnaz
Galehdari, Hamid - Abstract:
- <abstract abstract-type="main" id="ccr3168-abs-0001"> <title>Key Clinical Message</title> <p>Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the <italic>MLC1</italic> gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).</p> </abstract>
- Is Part Of:
- Clinical case reports. Volume 3:Issue 2(2015:Apr.)
- Journal:
- Clinical case reports
- Issue:
- Volume 3:Issue 2(2015:Apr.)
- Issue Display:
- Volume 3, Issue 2 (2015)
- Year:
- 2015
- Volume:
- 3
- Issue:
- 2
- Issue Sort Value:
- 2015-0003-0002-0000
- Page Start:
- 114
- Page End:
- 117
- Publication Date:
- 2014-11-26
- Subjects:
- Medicine -- Periodicals
616.09 - Journal URLs:
- http://onlinelibrary.wiley.com/ ↗
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904 ↗ - DOI:
- 10.1002/ccr3.168 ↗
- Languages:
- English
- ISSNs:
- 2050-0904
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 3214.xml