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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Bibliographic Details
Main Authors: Zaragoza, Michael V, Brandon, Martin C, Diegoli, Marta, Arbustini, Eloisa, Wallace, Douglas C
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2011
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025796/
https://ncbi.nlm.nih.gov/pubmed/20978534
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.169
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