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Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Hum Mutat. 2018 Dec;39(12):2047-2059. doi: 10.1002/humu.23657. Epub 2018 Oct 3.
Hum Mutat. 2018.
PMID: 30252186
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H.
Scheidecker S, et al.
Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18.
Hum Mutat. 2019.
PMID: 31116475
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