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Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis
- Source :
- Neurology (Ovid); April 2014, Vol. 82 Issue: 15 p1322-1330, 9p
- Publication Year :
- 2014
-
Abstract
- We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the IGHMBP2gene.
Details
- Language :
- English
- ISSN :
- 00283878 and 1526632X
- Volume :
- 82
- Issue :
- 15
- Database :
- Supplemental Index
- Journal :
- Neurology (Ovid)
- Publication Type :
- Periodical
- Accession number :
- ejs49014747
- Full Text :
- https://doi.org/10.1212/WNL.0000000000000305