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Table 3 Clinical features of mt-aaRS-related leukodystrophies

From: Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination

 LBSL (n = 128)
% of cases reported
LTBL (n = 21)
% of cases reported
AARS2 (n = 16)
% of cases reported
Sex (male)456256
Cognitive impairment or learning problems3010094
Motor or gait impairment9410088
Seizures7438
Psychiatric/behavior problemsNot reportedn/a93
Incontinence4n/a0
Sensory changes67Not reported13
Ovarian failure (female)0n/a100
Cardiac disease006
Visual/auditory impairment5146