Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
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DOI: 10.1186/s12881-020-01002-4
Abstract: The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause… read more here.
Keywords: cerebellar ataxia; age; onset cerebellar; twnk ... See more keywords