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 the m.8344A>G point mutation and lipomas : a case study. / Jeppesen, Tina Dysgaard; Al-Hashimi, Noor; Duno, Morten; Wibrand, Flemming; Andersen, Grete; Vissing, John.
I: Clinical Case Reports, Bind 5, Nr. 12, 12.2017, s. 2034-2039.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
VL - 5
SP - 2034
EP - 2039
JO - Clinical Case Reports
JF - Clinical Case Reports
SN - 2050-0904
IS - 12
ER -
ID: 196371381