Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S
Human reproduction (Oxford, England) (2006), Volume 21, Page 2467
PubMed entry Publisher's site

Abstract:

Premature ovarian failure (POF) results in menopause before the age of ...
Premature ovarian failure (POF) results in menopause before the age of 40. Recently, mutations in the catalytic subunit of mitochondrial DNA polymerase gamma (POLG) were shown to segregate with POF in families with progressive external ophthalmoplegia (PEO) and multiple large-scale rearrangements of mitochondrial DNA (mtDNA).

Polymerases:

Human Pol gamma Y955C

Topics:

Status:

new topics/pols set partial results complete validated

Results:

No results available for this paper.
Log in to add missing results...

Entry validated by:

Log in to validate this paper...

Version:20241007

Using Polbase tables:

Sorting:

Tables may be sorted by clicking on any of the column titles. A second click reverses the sort order. <Ctrl> + click on the column titles to sort by more than one column (e.g. family then name).

Filtering:

It is also possible to filter the table by typing into the search box above the table. This will instantly hide lines from the table that do not contain your search text.