The inheritance of pathogenic mitochondrial DNA mutations
β Scribed by L.M. Cree; D.C. Samuels; P.F. Chinnery
- Book ID
- 116270764
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 471 KB
- Volume
- 1792
- Category
- Article
- ISSN
- 0925-4439
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Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations to cause human disease. The majority of mt-tRNA mutations are heteroplasmic and while some exhibit maternal transmission within families, many others are only seen as sporadic mutations. Using the availa
## Abstract More than 200 diseaseβrelated mitochondrial DNA (mtDNA) point mutations have been reported in the Mitomap (http://www.mitomap.org) database. These mutations can be divided into two groups: mutations affecting mitochondrial protein synthesis, including mutations in tRNA and rRNA genes; a