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Keywords: leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
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Biochem J (2012) 441 (3): 955–962.
Published: 16 January 2012
... leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) mitochondrial aspartyl-tRNA synthetase (mtAspRS) Different types of mutations have been found in DARS2 , i.e. deletions, nonsense and splice site mutations leading to major alterations at the protein level, and...