Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny

Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. Owing to a high mutation rate, mtDNA defects may occur at any nucleotide in its 16 569 bp sequence. Complete mtDNA sequencing may detect pathogenic mutations, which can be...

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Detalles Bibliográficos
Autores principales: Zaragoza, Michael V, Brandon, Martin C, Diegoli, Marta, Arbustini, Eloisa, Wallace, Douglas C
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025796/
https://www.ncbi.nlm.nih.gov/pubmed/20978534
http://dx.doi.org/10.1038/ejhg.2010.169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025796/
https://www.ncbi.nlm.nih.gov/pubmed/20978534
http://dx.doi.org/10.1038/ejhg.2010.169

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