Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

AE Frazier; AG Compton; Y Kishita; DH Hock; AE Welch; SSC Amarasekera; R Rius; LE Formosa; A Imai-Okazaki; D Francis; M Wang; NJ Lake; S Tregoning; JS Jabbari; A Lucattini; R Nitta; A Ohtake; K Murayama; DJ Amor; G McGillivray; FY Wong; MS van der Knaap; RJ Vermeulen; EJ Wiltshire; JM Fletcher; B Lewis; G Baynam; C Ellaway; S Balasubramaniam; K Bhattacharya; ML Freckmann; RJ Taft; S Sadedin; MJ Cowley; AE Minoche; SE Calvo; VK Mootha; MT Ryan; Y Okazaki; DA Stroud; C Simons; J Christodoulou; DR Thorburn

Conference Proceedings

Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

AE Frazier, AG Compton, Y Kishita, DH Hock, AE Welch, SSC Amarasekera, R Rius, LE Formosa, A Imai-Okazaki, D Francis, M Wang, NJ Lake, S Tregoning, JS Jabbari, A Lucattini, R Nitta, A Ohtake, K Murayama, DJ Amor, G McGillivray Show all

EUROPEAN JOURNAL OF HUMAN GENETICS | SPRINGERNATURE | Published : 2020

University of Melbourne Researchers

Ann Frazier Author

Alison G Compton Author

Daniella Hock Author

David Amor Author

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The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This tec..

DECIPHERING THE PATHOGENETICS OF RARE DISEASES BY MULTI-OMIC APPROACHES: DISORDERS OF MITOCHONDRIAL ENERGY GENERATION AS AN EXEMPLAR

Grants

Awarded by Australian NHMRC

Awarded by US DoD CDMRP

Awarded by Japanese AMED

Awarded by Japanese JSPS

Awarded by Grants-in-Aid for Scientific Research

Awarded by CDMRP

Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

Supported by grants from the Australian NHMRC 1164479 and 1113531, US DoD CDMRP PR170396; the Japanese AMED 19ek0109273, 18ek0109177, 19kk0205014 and 18kk0205002; Japanese JSPS 19H03624 and the Australian Mito Foundation.

Keywords

Life Sciences & Biomedicine

Genetics & Heredity

Biochemistry & Molecular Biology

Science & Technology