References
- Bressman SB. Genetics of dystonia: an overview. Parkinsonism Relat Disord. 2007;13(Suppl 3):S347–55.
- Asmus F, Gasser T. Dystonia-plus syndromes. Eur J Neurol. 2010;17(Suppl 1):37–45.
- Ritz K, van Schaik BDC, Jakobs ME, van Kampen AH, Aronica E, Tijssen MA, et al.. SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis? Eur J Hum Genet. 2011;19:438–44.
- Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, et al.. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet. 2006;43:394–400.
- Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, et al.. SGCE missense mutations that cause myoclonus–dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation. Hum Mol Genet. 2007;16:327–42.
- Wong SH, Steiger MJ, Larner AJ, Fletcher NA. Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity. Mov Disord. 2010;25:956–7.
- Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, et al.. Myoclonus–dystonia: Significance of Large SGCE Deletions. Hum Mutat. 2008;29:331–2.
- Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, et al.. Myoclonus–dystonia: clinical and genetic evaluation of a large cohort. J Neurol Neurosurg Psychiatry. 2009;80:653–8.
- Foncke EM, Gerrits MC, van Ruissen F, Baas F, Hedrich K, Tijssen CC, et al.. Distal myoclonus and late onset in a large Dutch family with myoclonus–dystonia. Neurology. 2006;67:1677–80.
- Kinugawa K, Vidailhet M, Clot F, Apartis E, Grabli D, Roze E. Myoclonus–dystonia: an update. Mov Disord. 2009;24:479–89.