Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Abstract Background 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 mitochondrial DNA dep...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2020-03-01T00:00:00Z.
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