Clinical case
Novel dominant variant in STUB1 causing ataxia, movement disorders and cognitive impairment: A complex phenotype mimicking SCA17
Nueva variante en STUB1 causante de ataxia, trastornos del movimiento y compromiso cognitivo: un fenotipo complejo que simula SCA17
Sergio Rodríguez-Quirogaa,c,◊,
, Josefina Perez Maturoa,b,◊, Lucia Zavalaa, Marcelo Andres Kauffmana,b
Corresponding author
a Consultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología “José María Ramos Mejía” y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, Argentina
b Programa de Medicina de Precisión y Genómica Clínica, Instituto de Investigaciones en Medicina Traslacional, Facultad de Ciencias Biomédicas, Universidad Austral-CONICET, Pilar, Argentina
c Área de Trastornos del Movimiento, Centro Universitario de Neurología “José María Ramos Mejía” y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, Argentina
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