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 - Tập 365 - Trang 54-58 - 2016
Sevim Şahin1, Ali Cansu1, Ersan Kalay2, Tuba Dinçer2, Sibel Kul3, İsmet Miraç Çakır3, Tülay Kamaşak1, Gülden Yorgancıoğlu Budak4
1Department of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey
2Department of Medical Biology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey
3Department of Radiology, Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey
4Department of Medical Biology, Karadeniz Technical University Health Science Institute, Trabzon, Turkey

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Journal of the Neurological Sciences

Tập 365

54-58

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