
PMC . NCBI . NLM . NIH . GOV {
}
Title:
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny - PMC
Description:
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 ...
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Keywords {🔍}
variants, mtdna, doi, mitochondrial, mutations, pubmed, google, scholar, cardiomyopathy, haplogroup, analysis, potential, disease, case, dna, sequence, mutation, noncm, patients, pmc, pathogenic, mitomaster, mag, article, variation, sequences, approach, variant, table, clinical, free, normal, rare, mtc, mtcyb, patient, mtco, gene, human, frequencies, sequencing, conservation, haplogroupassociated, cases, based, included, mct, heart, heteroplasmic, dilated,
Topics {✒️}
pmc beta search de-identified dna samples hereditary optic neuropathy high-throughput genome sequencing mitochondrial diseaseb mrna/nonsyn references wallace dc publisher site pdf methods study cohort supplementary materials included age-matched prostate samples global mtdna variation human genetics website altered amino acids nucleic acids res bundle branch block license information pmcid mitochondrial dna variation nih grants ns21328 human mitochondrial dna pmc disclaimer maternally inherited myopathy haplogroup-specific control data sporadic parathyroid adenoma ruiz-pesini extracted genomic dna electrocardiogram results normal mitochondrial dna mutations inherited cardiovascular diseases histopathological features include bundle branch blocks dr eloisa arbustini predicted amino acid altered amino acid mitochondrial dna sequencing mtdna phylogenetic tree transmitochondrial cybrid studies human mitochondrial genome mitochondrial dna detected identify potential mutations normal mitochondrial variation mitochondrial dna sequences united states government abi 3730xl sequencer circles represent females squares represent males nonsustained supraventricular tachycardia patent foramen ovale cavalli-sforza ll bmc endocr disord abnormal mitochondrial function
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