An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300a>g as a cause of genetically elusive hypertrophic cardiomyopathy

HIGHLIGHTS

• What: With the future availability of WGS at clinical level, mtDNA will be analysed simultaneously with known nuclear causal genes.
• Who: Mitochondrial DNA and collaborators from the Institute of Cardiovascular Science, University College London, London, UK have published the paper: BRIEF REPORT Open Access, in the Journal: (JOURNAL)
• How: The authors analysed 1363 from the 100KGP project (of which only 172 had been previously solved) to detect disease causing mtDNA variants.

SUMMARY

More than half of patients with cardiomyopathy have an elusive genetic cause. MtDNA is not routinely analysed . . .

 



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