Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report


      • SGCE is the most predominant causative gene for myoclonus-dystonia.
      • The new SGCE nonsense mutation provides clinical information for the diagnosis and treatment of myoclonus-dystonia.
      • The features of the Archimedes spiral diagram help to identify different movement disorders.


      Myoclonus-dystonia caused by mutations in the SGCE gene is clinically characterized by early onset, myoclonus, and dystonia. Here we describe a family in which several members exhibit varying degrees of myoclonus and dystonia, caused by a novel heterozygous mutation in the SGCE gene.


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