Barbosa-Gouveia S et al. Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. Genes (Basel). 2020;11(9):1028. PMID: 32887222.
Steenweg ME et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012; 135: 1387-1394. PMID: 22492562.
EARS2