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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Mitochondrial DNA mutation load in a family with the m.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 languageEnglish
JournalAACE clinical case reports
Volume5
Issue number12
Pages (from-to)2034-2039
Number of pages6
ISSN2376-0605
DOIs
Publication statusPublished - Dec 2017

    Research areas

  • Journal Article

ID: 52147319