Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS
Author:
Publisher
Wiley
Subject
Neurology (clinical),General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1529-8027.2012.00370.x/fullpdf
Reference10 articles.
1. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.;Antonellis;Am J Hum Genet,2003
2. Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.;Del Bo;Neurology,2006
3. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.;Dubourg;Neurology,2006
4. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).;Ionasescu;Hum Mol Genet,1996
5. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.;James;Neurology,2006
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