Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
Human Molecular Genetics
Goffart, Steffi S; Cooper, Helen M HM; Tyynismaa, Henna H; Wanrooij, Sjoerd S; Suomalainen, Anu A; Spelbrink, Johannes N JN