Additional file 2: of Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

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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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Video
Sprache:eng
Schlagworte:
FOS: Biological sciences
Genetics
Virology
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Zusammenfassung: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:10.6084/m9.figshare.6823829