Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers.

Noch, Evan; Henchcliffe, Claire; Hellmers, Natalie; Chu, Mary Lynn; Pappas, John; Moran, Ellen; Alcaraz, Wendy; Sarva, Harini.

Noch E; Department of Neurology Weill Cornell Medicine New York-Presbyterian Hospital New York New York USA.
Henchcliffe C; Department of Neurology Weill Cornell Medicine New York-Presbyterian Hospital New York New York USA.
Hellmers N; Department of Neurology Weill Cornell Medicine New York-Presbyterian Hospital New York New York USA.
Chu ML; Department of Neurology New York University Langone Medical Center New York New York USA.
Pappas J; Department of Pediatrics New York University Langone Medical Center New York New York USA.
Moran E; Center for Children New York University Hospital for Joint Diseases New York New York USA.
Alcaraz W; Ambry Genetics Aliso Viejo California USA.
Sarva H; Department of Neurology Weill Cornell Medicine New York-Presbyterian Hospital New York New York USA.

Mov Disord Clin Pract ; 5(1): 92-95, 2018.

Article en En | MEDLINE | ID: mdl-30746398