Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

M.E. Steenweg, D. Ghezzi, T. Haack, G.E.M. Abbink, D. Martinelli, C.G.M. van Berkel, A. Bley, L. Diogo, E. Grillo, J.T.W. Naude, T.M. Strom, E. Bertini, H. Prokisch, M.S. van der Knaap, M. Zeviani

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