Open AccessBiallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
Author(s) -
Marjo S. van der Knaap,
Marianna Bugiani,
Marisa I. Mendes,
Lisa G. Riley,
Desirée E.C. Smith,
Joëlle Rudinger-Thirion,
Magali Frugier,
Marjolein Breur,
Joanna Crawford,
Judith van Gaalen,
Meyke Schouten,
Marjolaine Willems,
Quinten Waisfisz,
Frédéric Tran MauThem,
Richard J. Rodenburg,
Ryan J. Taft,
Boris Keren,
John Christodoulou,
Christel Depienne,
Cas Simons,
Gajja S. Salomons,
Fanny Mochel
Publication year - 2019
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000007098
Subject(s) - leukodystrophy , biology , aminoacylation , compound heterozygosity , mitochondrial disease , white matter , mutation , pathology , genetics , microbiology and biotechnology , mitochondrial dna , transfer rna , medicine , gene , rna , disease , magnetic resonance imaging , radiology
To describe the leukodystrophy caused by pathogenic variants in LARS2 and KARS , encoding mitochondrial leucyl transfer RNA (tRNA) synthase and mitochondrial and cytoplasmic lysyl tRNA synthase, respectively.