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
Descripción
Sumario: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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