Mutations in KARS have been so far associated with various phenotypes: autosomal recessive CMT 38, nonsyndromic hearing loss 36, childhood‐onset visual impairment with progressive microcephaly with combined mitochondrial respiratory chain defect 68, and a severe cardiomyopathy associated with myopathy, intellectual disability and lactic acidosis 69, and recently with early‐onset, profound sensorineural hearing loss and leukoencephalopathy 70, making clear genotype–phenotype correlations difficult for KARS. Here, KARS1 is linked to Mitochondrial respiratory chain defects.