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

Human Mutation, EarlyView.

Source: Human Mutation - October 3, 2018 Category: Genetics & Stem Cells Authors: Benedetta Ruzzenente, Zahra Assouline, Giulia Barcia, Marl ène Rio, Nathalie Boddaert, Arnold Munnich, Agnès Rötig, Metodi D. Metodiev Source Type: research