Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2). Issue 2 (February 2015) - Vanlander, Arnaud V.
Abstract Pathogenic variants in mitochondrial aminoacyl‐tRNA synthetases are an emerging group of causative molecular defects for individuals presenting a combined OXPHOS deficiency. This paper presents two siblings with a pathogenic splice site mutation in the asparaginyl tRNA synthetase (NARS2) and describes the functional and biochemical consequences of this mutation.