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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Scheper GC, et al. Among authors: muravina ti. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Nat Genet. 2007. PMID: 17384640
[Three cases of non-differentiated leukodystrophy with involvement of cerebral hemisphere's white matter and cerebellum and specific lesions of cerebral pathways. Neuroimaging and clinico-biochemical characteristics].
Serkov SV, Pronin IN, Bykova OV, Maslova OI, Fadeeva LM, Arutiunova NV, Muravina TI, Kornienko VN. Serkov SV, et al. Among authors: muravina ti. Zh Nevrol Psikhiatr Im S S Korsakova. 2003;(Spec No 2):61-7. Zh Nevrol Psikhiatr Im S S Korsakova. 2003. PMID: 12938636 Russian.