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

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...

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Detalles Bibliográficos
Autores principales: Jeppesen, Tina Dysgaard, Al‐Hashimi, Noor, Duno, Morten, Wibrand, Flemming, Andersen, Grete, Vissing, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715413/
https://www.ncbi.nlm.nih.gov/pubmed/29225851
http://dx.doi.org/10.1002/ccr3.1096
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author Jeppesen, Tina Dysgaard
Al‐Hashimi, Noor
Duno, Morten
Wibrand, Flemming
Andersen, Grete
Vissing, John
author_facet Jeppesen, Tina Dysgaard
Al‐Hashimi, Noor
Duno, Morten
Wibrand, Flemming
Andersen, Grete
Vissing, John
author_sort Jeppesen, Tina Dysgaard
collection PubMed
description 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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spelling pubmed-57154132017-12-08 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-11-02 /pmc/articles/PMC5715413/ /pubmed/29225851 http://dx.doi.org/10.1002/ccr3.1096 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Jeppesen, Tina Dysgaard
Al‐Hashimi, Noor
Duno, Morten
Wibrand, Flemming
Andersen, Grete
Vissing, John
Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
title Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
title_full Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
title_fullStr Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
title_full_unstemmed Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
title_short Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
title_sort mitochondrial dna mutation load in a family with the m.8344a>g point mutation and lipomas: a case study
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715413/
https://www.ncbi.nlm.nih.gov/pubmed/29225851
http://dx.doi.org/10.1002/ccr3.1096
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