Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study. Issue 12 (2nd November 2017)

• Record Type: Journal Article
• Authors: Jeppesen, Tina Dysgaard; Al‐Hashimi, Noor; Duno, Morten; Wibrand, Flemming; Andersen, Grete; Vissing, John
• Is Part Of: Clinical case reports. Volume 5:Issue 12(2017)
• Page Start: 2034
• Page End: 2039
• Publication Date: 2017-11-02
• Subjects: Lipomas -- mitochondrial myopathy -- mtDNA mutation -- segregation; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1096
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : 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.