Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice-Reference-Cited by-同舟云学术

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Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Published:2005-11-21 Issue:49 Volume:102 Page:17687-17692
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Tyynismaa H.,Mjosund K. P.,Wanrooij S.,Lappalainen I.,Ylikallio E.,Jalanko A.,Spelbrink J. N.,Paetau A.,Suomalainen A.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference31 articles.

1. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

2. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

3. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

4. Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

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