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 - 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