Learning disability in a son and premature ovarian failure as clinical pointers to identify a premutation on the X chromosome in a female with long-standing tremor.

Autor: López-Blanco R; Department of Neurology, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Hospital 12 de Octubre Health Research Institute, Av. Cordoba s/n, Madrid, Spain. Electronic address: robretolb@gmail.com., Posada Rodríguez IJ; Department of Neurology, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Movement Disorders Unit, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Department of Medicine, Complutense University, Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address: ignaciojavier.posada@salud.madrid.org., Benito-León J; Department of Neurology, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Department of Medicine, Complutense University, Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address: jbenitol67@gmail.com.
Jazyk: angličtina
Zdroj: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2017 Sep; Vol. 42, pp. 107-108. Date of Electronic Publication: 2017 Jun 15.
DOI: 10.1016/j.parkreldis.2017.06.008
Databáze: MEDLINE