A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-04718-6.pdf
Reference12 articles.
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2. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T (2001) Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 29:66–69. https://doi.org/10.1038/ng709
3. Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C (2016) Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force. Mov Disord 31:436–457
4. Asmus F, Zimprich A, Du Montcel ST et al (2002) Myoclonus-dystonia syndrome: ε-sarcoglycan mutations and phenotype. Ann Neurol 52:489–492. https://doi.org/10.1002/ana.10325
5. Timmers ER, Smit M, Kuiper A, Bartels AL, van der Veen S, van der Stouwe AMM, Santens P, Bergmans B, Tijssen MAJ (2019) Myoclonus-dystonia: distinctive motor and non-motor phenotype from other dystonia syndromes. Parkinsonism Relat Disord 69:85–90. https://doi.org/10.1016/j.parkreldis.2019.10.015
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