title: A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
authors.forename: N
authors.initials: N
authors.lastname: Miyake
authors.forename: S
authors.initials: S
authors.lastname: Yamashita
authors.forename: K
authors.initials: K
authors.lastname: Kurosawa
authors.forename: S
authors.initials: S
authors.lastname: Miyatake
authors.forename: Y
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: H
authors.initials: H
authors.lastname: Doi
authors.forename: H
authors.initials: H
authors.lastname: Saitsu
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D017668:Age of Onset; D001226:Aspartate-tRNA Ligase / Q000235:genetics*; D002675:Child, Preschool; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007564:Japan; D019344:Lactic Acid / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D054038:Posterior Leukoencephalopathy Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D019344:Lactic Acid; D001226:Aspartate-tRNA Ligase; C558608:DARS2 protein, human