O. Hikmat and colleagues conduct genetic investigation that revealed ADCK3 mutations in patients with childhood-onset epilepsy and progressive cerebellar ataxia including a novel change in exon 15: c.T1732G, p.F578V. There was no apparent genotype-phenotype correlation. They also suggested that ADCK3 mutations be considered in the differential diagnosis of mitochondrial encephalopathy with POLG-like features.
Hikmat, O. et al. European Journal of Neurology.
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