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

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