Title : Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

Pub. Date : 2019 Mar 12

PMID : 30737337






1 Functional Relationships(s)
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1 In 2 other patients with LARS2 and KARS pathogenic variants, magnetic resonance spectroscopy revealed elevated white matter lactate, suggesting mitochondrial disease. Lactic Acid leucyl-tRNA synthetase 2, mitochondrial Homo sapiens