A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201751.pdf
Reference21 articles.
1. van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003; 53: 252–258.
2. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007; 39: 534–539.
3. van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P et al. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain 2014; 137: 1019–1029.
4. Schicks J, Schols L, van der Knaap MS, Synofzik M . Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL). Neurology 2013; 80: e176–e177.
5. Yamashita S, Miyake N, Matsumoto N, Osaka H, Iai M, Aida N et al. Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2. Brain Dev 2013; 35: 312–316.
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