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Table 2 Laboratory results

From: Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

Test Results
Chromosome karyotype 46 XX, normal
Plasma ammonia Normal
Lactate Normal
TORCH Negative
Genetic Metabolic Screening Negative
Electroencephalogram EEG Normal
Auditory brain-stem responses, ABR Over than threshold (50dbnnl)
Vitamin B Normal
Trace elements Normal
Creatine kinase Normal
Thyroid function Normal