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.
| Original language | English |
|---|---|
| Journal | Clinical Case Reports |
| Volume | 5 |
| Issue number | 12 |
| Pages (from-to) | 2034-2039 |
| Number of pages | 6 |
| ISSN | 2050-0904 |
| DOIs | |
| Publication status | Published - Dec 2017 |
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ID: 196371381