Article
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.
Trends in genetics : TIG - 1 Nov 1997
Lightowlers R N, Chinnery P F, Turnbull D M, Howell N
Abstract excerpt
Mammalian mitochondrial DNA (mtDNA) is present at high copy number (10(3)-10(4) copies) in virtually all cells of the body. The mitochondrial genome shows strict maternal inheritance and the vast majority of copies are identical at birth (homoplasmy). Occasionally, a subpopulation of mtDNA molecules carry a pathogenic mutation. When this heteroplasmic mtDNA is present during embryogenesis, it can lead to a...
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