Rare Neurodegenerative Diseases

European Meeting of Human Genetics

Lola Martínez-Rubio presented at the meeting of the European Society of Human Genetics held this August the communication entitled: "Mutations, genes and phenotypes related to movement disorders: an endless list". This work collects the study of years in which many clinicians have collaborated. The investigated cohort comprises 124 patients studied using different genetic strategies: Sanger sequencing, gene panel (MovDisord-498), and exome sequencing. The diagnostic success rate achieved has been 46.87%.