Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy
Molecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three different bi-allelic truncating mutations in TANGO2 in three unrelated individuals with infancy-onset episodic metabolic crises characterized...
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| Main Authors: | , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
January 21, 2016
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| In: |
The American journal of human genetics
Year: 2016, Volume: 98, Issue: 2, Pages: 358-362 |
| ISSN: | 1537-6605 |
| DOI: | 10.1016/j.ajhg.2015.12.009 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1016/j.ajhg.2015.12.009 Verlag: http://www.sciencedirect.com/science/article/pii/S0002929715005042 
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| Author Notes: | Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, and Tobias B. Haack |
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