Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency
Journal article published in 2020 by
Ann E. Frazier,
Alison G. Compton,
Y. Kishita,
Daniella H. Hock,
A. E. Welch,
Sumudu S. C. Amarasekera 
,
R. Rius,
L. E. Formosa,
A. Imai-Okazaki,
D. Francis,
M. Wang,
N. J. Lake,
S. Tregoning,
J. S. Jabbari,
A. Lucattini
and other authors.
,
R. Rius,
L. E. Formosa,
A. Imai-Okazaki,
D. Francis,
M. Wang,
N. J. Lake,
S. Tregoning,
J. S. Jabbari,
A. Lucattini
and other authors.
