Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants

Circ Genom Precis Med. 2021 Jun;14(3):e003388. doi: 10.1161/CIRCGEN.121.003388. Epub 2021 May 10.

Luis R Lopes^{1

2}, David Murphy³, Enrico Bugiardini⁴, Reem Salem⁵, Joanna Jager¹, Marta Futema¹, Mohammed Majid Akhtar^{1

2}, Konstantinos Savvatis^{1

2

6}, Cathy Woodward⁷, Alan M Pittman⁸, Michael G Hanna⁴, Petros Syrris¹, Robert D S Pitceathly^#⁴, Perry M Elliott^#^{1

2}

¹ Centre for Heart Muscle Disease, Institute of Cardiovascular Science (L.R.L., J.J., M.F., M.M.A., K.S., P.S., P.M.E.), University College London.
² Barts Heart Centre, St. Bartholomew's Hospital, Barts Health National Health Service Trust (L.R.L., M.M.A., K.S., P.M.E.).
³ Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology (D.M.), University College London.
⁴ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery (E.B., M.G.H., R.D.S.P.).
⁵ UCL Division of Biosciences (R.S.), University College London.
⁶ William Harvey Research Institute, Queen Mary University London (K.S.).
⁷ Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery (C.W.).
⁸ Genetics Research Centre, Molecular and Clinical Sciences, St. Georges University of London, United Kingdom (A.M.P.).

^# Contributed equally.

No abstract available

Keywords: exome; genetics; hypertrophic cardiomyopathy; mitochondrial disease.

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