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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