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

TY - JOUR

T1 - Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas

T2 - a case study

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.

U2 - 10.1002/ccr3.1096

DO - 10.1002/ccr3.1096

M3 - Journal article

C2 - 29225851

SN - 2050-0904

VL - 5

SP - 2034

EP - 2039

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 12

ER -