Article
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
American journal of human genetics - 4 Feb 2016
Lalani Seema R, Liu Pengfei, Rosenfeld Jill A, Watkin Levi B, Chiang Theodore, Leduc Magalie S, Zhu Wenmiao, Ding Yan, Pan Shujuan, Vetrini Francesco, Miyake Christina Y, Shinawi Marwan, Gambin Tomasz, Eldomery Mohammad K, Akdemir Zeynep Hande Coban, Emrick Lisa, Wilnai Yael, Schelley Susan, Koenig Mary Kay, Memon Nada, Farach Laura S, Coe Bradley P, Azamian Mahshid, Hernandez Patricia, Zapata Gladys, Jhangiani Shalini N, Muzny Donna M, Lotze Timothy, Clark Gary, Wilfong Angus, Northrup Hope, Adesina Adekunle, Bacino Carlos A, Scaglia Fernando, Bonnen Penelope E, Crosson Jane, Duis Jessica, Maegawa Gustavo H B, Coman David, Inwood Anita, McGill Jim, Boerwinkle Eric, Graham Brett, Beaudet Art, Eng Christine M, Hanchard Neil A, Xia Fan, Orange Jordan S, Gibbs Richard A, Lupski James R, Yang Yaping
Abstract excerpt
The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of individuals presenting with recurrent metabolic crises and muscle weakness. Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Golgi organization 2 homolog (Drosophila) in 12 subjects with episodic rhabdomyolysis, hypoglycemia, hyperammonemia, and susceptibility to...
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