Additional file 2: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Video 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)
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| creator | McMillan, Hugh Telegrafi, Aida Singleton, Amanda Cho, Megan Lelli, Daniel Lynn, Francis Griffin, Julie Asamoah, Alexander Rinne, Tuula Erasmus, Corrie Koolen, David Haaxma, Charlotte Keren, Boris Doummar, Diane Mignot, Cyril Islay Thompson Velsher, Lea Mohammadreza Dehghani Mehrjardi, Mohammad Vahidi Maroofian, Reza Tchan, Michel Simons, Cas Christodoulou, John MartĂN-HernĂĄndez, Elena Sacoto, Maria Guillen Henderson, Lindsay McLaughlin, Heather Molday, Laurie Molday, Robert Yoon, Grace |
| description | Video 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) |
| doi_str_mv | 10.6084/m9.figshare.6823829 |
| format | Video |
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| identifier | DOI: 10.6084/m9.figshare.6823829 |
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| subjects | FOS: Biological sciences Genetics Virology |
| title | Additional file 2: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy |
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