Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Tina Dysgaard Jeppesen; Noor Al-Hashimi; Morten Duno; Flemming Wibrand; Grete Andersen; John Vissing

doi:10.1002/ccr3.1096

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Tina Dysgaard Jeppesen, Noor Al-Hashimi, Morten Duno, Flemming Wibrand, Grete Andersen, John Vissing

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.

Originalsprog	Engelsk
Tidsskrift	AACE clinical case reports
Vol/bind	5
Udgave nummer	12
Sider (fra-til)	2034-2039
Antal sider	6
ISSN	2376-0605
DOI	https://doi.org/10.1002/ccr3.1096
Status	Udgivet - dec. 2017

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10.1002/ccr3.1096

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title = "Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study",

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.",

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AU - Jeppesen, Tina Dysgaard

AU - Al-Hashimi, Noor

AU - Duno, Morten

AU - Wibrand, Flemming

AU - Andersen, Grete

AU - Vissing, John

PY - 2017/12

Y1 - 2017/12

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1002/ccr3.1096

DO - 10.1002/ccr3.1096

M3 - Journal article

C2 - 29225851

SN - 2376-0605

VL - 5

SP - 2034

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JO - AACE clinical case reports

JF - AACE clinical case reports

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ER -

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Abstract

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