PMC Links for OMIM (Select 616878) - PMC

Select item 89748791.

TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia

Jessica Frey, Matthew R. Burns, Shannon Y. Chiu, Aparna Wagle Shukla, Ahmad El Kouzi, Jessica Jackson, Pamela H. Arn, Irene A. Malaty

Mov Disord Clin Pract. 2022 Apr; 9(3): 380–382. Published online 2022 Jan 4. doi: 10.1002/mdc3.13400

PMCID:: PMC8974879

Article PDF–1.1M

Select item 88664662.

Mitochondrial dysfunction associated with TANGO2 deficiency

Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez

Sci Rep. 2022; 12: 3045. Published online 2022 Feb 23. doi: 10.1038/s41598-022-07076-9

PMCID:: PMC8866466

Abstract Article PDF–5.0M

Select item 70789143.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L. Alston, Nicolai Kohlschmidt, Gina O'Grady, Leigh Waddell, Frances Evesson, Sandra B. T. Cooper, Christian Turner, Jennifer Duff, Ana Topf, Delia Yubero, Cristina Jou, Andrés Nascimento, Carlos Ortez, Angels García‐Cazorla, Claudia Gross, Maria O'Callaghan, Saikat Santra, Maryanne A. Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Majumdar Anirban, Germaine Pierre, Daniel McArthur, Kyle Thompson, Placido Navas, Antonia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Georgia Sarquella, Hanns Lochmüller, Cecilia Jiménez‐Mallebrera, Robert W. Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C. Grünert, Andreas Roos, Rita Horvath

J Inherit Metab Dis. 2020 Mar; 43(2): 297–308. Published online 2019 Aug 13. doi: 10.1002/jimd.12156

PMCID:: PMC7078914

Abstract Article PDF–2.2M

Select item 67522774.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden-Grant, Amy LaCroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara Burton, Katherine Kim, Leah Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Ficicioglu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

Genet Med. 2019; 21(3): 601–607. Published online 2018 Sep 24. doi: 10.1038/s41436-018-0137-y

Correction in:: Genet Med. 2019; 21(8): 1899.

PMCID:: PMC6752277

Abstract Article PDF–951K

Select item 47463375.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

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, Tobias B. Haack

Am J Hum Genet. 2016 Feb 4; 98(2): 358–362. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.009

PMCID:: PMC4746337

Abstract Article PDF–402K

Select item 47463346.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y. Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K. Eldomery, Zeynep Hande Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Kay Koenig, Nada Memon, Laura S. Farach, Bradley P. Coe, Mahshid Azamian, Patricia Hernandez, Gladys Zapata, Shalini N. Jhangiani, Donna M. Muzny, Timothy Lotze, Gary Clark, Angus Wilfong, Hope Northrup, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Penelope E. Bonnen, Jane Crosson, Jessica Duis, Gustavo H.B. Maegawa, David Coman, Anita Inwood, Jim McGill, Eric Boerwinkle, Brett Graham, Art Beaudet, Christine M. Eng, Neil A. Hanchard, Fan Xia, Jordan S. Orange, Richard A. Gibbs, James R. Lupski, Yaping Yang

Am J Hum Genet. 2016 Feb 4; 98(2): 347–357. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.008

PMCID:: PMC4746334

Abstract Article PDF–1.4M

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