Article
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Journal of the neurological sciences - 15 Jun 2016
Şahin Sevim, Cansu Ali, Kalay Ersan, Dinçer Tuba, Kul Sibel, Çakır İsmet Miraç, Kamaşak Tülay, Budak Gülden Yorgancıoğlu
Abstract excerpt
Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase. We report clinical and radiological findings for two siblings with new pathogenic mutations in the EARS2 gene. Both patients showed symptoms of mild-type disease, but there were clinical differences between the two siblings....
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