Novel SGCE Mutation in a Patient With Myoclonus-Dystonia
Author:
Affiliation:
1. From the Department of Neurology (E.K., J.S.P., A.A.D., B.M.); and Division of Genetics and Genomic Medicine (C.G.), Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Link
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200128
Reference9 articles.
1. Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction
2. Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome
3. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force
4. Raymond D, Saunders-Pullman R, Ozelius L. SGCE Myoclonus-Dystonia. GeneReviews®; 1993.
5. Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment
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