A novel variation in the Twinkle linker region causing late-onset dementia
A novel variation in the Twinkle linker region causing late-onset dementia
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Variations in the mitochondrial helicase Twinkle (
PEO1
) gene are usually associated with autosomal dominant chronic progressive external ophthalmoplegia (PEO). We describe five patients from two unrelated Alsatian families with the new R374W variation in the Twinkle linker region who progressively developed an autosomal dominant multisystem...
Alternative Titles
Full title
A novel variation in the Twinkle linker region causing late-onset dementia
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_746271892
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_746271892
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-009-0202-4
