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Additional file 2: 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 YoonVideo S1. Patient 1 (age 4Â years old) demonstrates chorea of her head, upper and lower extremities characteristic of patients with ATP8A2 mutations. (MOV 7783 kb)
