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Additional file 5: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

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posted on 2018-05-31, 05:00 authored by Hugh McMillan, Aida Telegrafi, Amanda Singleton, Megan Cho, Daniel Lelli, Francis Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie Erasmus, David Koolen, Charlotte Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena MartĂ­n-HernĂĄndez, Maria Guillen Sacoto, Lindsay Henderson, Heather McLaughlin, Laurie Molday, Robert Molday, Grace Yoon
Video S4. Patient 4 demonstrating chorea as well as ptosis and ophthalmoplegia. (MOV 2274 kb)

Funding

Canadian Institutes of Health Research

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