De novo mtDNA point mutations are common and have a low recurrence risk

BACKGROUND: Severe, disease-causing germline mitochondrial (mt)DNA mutations are maternally inherited or arise de novo. Strategies to prevent transmission are generally available, but depend on recurrence risks, ranging from high/unpredictable for many familial mtDNA point mutations to very low for...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Mitochondrial Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5502310/
https://ncbi.nlm.nih.gov/pubmed/27450679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103876
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