Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
| Autor: | Morten Duno, Tina D. Jeppesen, Grete Andersen, Flemming Wibrand, John Vissing, Noor Al-Hashimi |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics Mitochondrial DNA Mutation rate Point mutation mitochondrial myopathy mtDNA mutation Case Report General Medicine Case Reports Biology medicine.disease Lipomas Molecular biology Phenotype segregation 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Mitochondrial myopathy Genotype Mutation (genetic algorithm) medicine 030217 neurology & neurosurgery |
| Zdroj: | Clinical Case Reports Jeppesen, T D, Al-Hashimi, N, Duno, M, Wibrand, F, Andersen, G & Vissing, J 2017, ' Mitochondrial DNA mutation load in a family with the m.8344A >G point mutation and lipomas : a case study ', Clinical Case Reports, vol. 5, no. 12, pp. 2034-2039 . https://doi.org/10.1002/ccr3.1096 |
| ISSN: | 2050-0904 |
| Popis: | Key Clinical Message Studies have shown that difference in mtDNA mutation load among tissues is a result of postnatal modification. We present five family members with the m.8344A>G with variable phenotypes but uniform intrapersonal distribution of mutation load, indicating that there is no postnatal modification of mtDNA mutation load in this genotype. |
| Databáze: | OpenAIRE |
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