title: Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
authors.forename: Beril
authors.initials: B
authors.lastname: Talim
authors.forename: Angela
authors.initials: A
authors.lastname: Pyle
authors.forename: Helen
authors.initials: H
authors.lastname: Griffin
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
authors.forename: Aysegul
authors.initials: A
authors.lastname: Tokatli
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Keogh
authors.forename: Mauro
authors.initials: M
authors.lastname: Santibanez-Koref
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
mesh_terms: D001933:Brain Stem / Q000473:pathology*; D005260:Female; D005975:Glutamate-tRNA Ligase / Q000235:genetics*; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism*; D056784:Leukoencephalopathies; D008297:Male; D009154:Mutation / Q000235:genetics*; D013788:Thalamus / Q000473:pathology*
chemical_list: D019344:Lactic Acid; D005975:Glutamate-tRNA Ligase