Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 syndrome 7 and Perrault syndrome 5. Perrault syndrome is charac...
Alternative Titles
Full title
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_22f05a9c7cd84ecea5a2659576d84a38
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_22f05a9c7cd84ecea5a2659576d84a38
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-020-01002-4
