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Ataxia-Oculomotor Apraxia 4
An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that is caused by homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
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Overview
An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that is caused by homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
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