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

A. T. Pagnamenta | Zendy; JanWillem Taanman | Zendy; Callum Wilson | Zendy; Neil E. Anderson | Zendy; Rosetta Marotta | Zendy; A. J. Duncan | Zendy; Maria Bitner Glindzicz | Zendy; Rachael W. Taylor | Zendy; Adrienne Laskowski | Zendy; David R. Thorburn | Zendy; S. Rahman | Zendy

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

Author(s) -

A. T. Pagnamenta,

JanWillem Taanman,

Callum Wilson,

Neil E. Anderson,

Rosetta Marotta,

A. J. Duncan,

Maria Bitner Glindzicz,

Rachael W. Taylor,

Adrienne Laskowski,

David R. Thorburn,

S. Rahman

Publication year - 2006

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/del076

Subject(s) - mitochondrial dna , biology , polymerase , genetics , heteroplasmy , microbiology and biotechnology , mutation , polymerase chain reaction , dna polymerase , primer (cosmetics) , southern blot , dna , gene , chemistry , organic chemistry

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).

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