Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
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- Mitochondrial DNA mutation load in a family with them.8344A>G point mutation and lipomas: a case study
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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.
Originalsprog | Engelsk |
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Tidsskrift | Clinical Case Reports |
Vol/bind | 5 |
Udgave nummer | 12 |
Sider (fra-til) | 2034-2039 |
Antal sider | 6 |
ISSN | 2050-0904 |
DOI | |
Status | Udgivet - dec. 2017 |
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ID: 196371381