Article
A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2020
Delgado-Alvarado Manuel, Matilla-Dueñas Antoni, Altadill-Bermejo Antonio, Setién Sonia, Misiego-Peral Mercedes, Sánchez-de la Torre José Ramón, Corral-Juan Marc, Riancho Javier
Abstract excerpt
Myoclonus-dystonia associated with epsilon-sarcoglycan gene (SGCE) is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more than half of the cases are associated with mutations in the SGCE gene. We herein describe a family with...
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