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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
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 depletion s...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7110654/ https://ncbi.nlm.nih.gov/pubmed/32234020 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01002-4 |
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