Advanced search
Publication Cover
Neurological Research
A Journal of Progress in Neurosurgery, Neurology and Neurosciences
Volume 35, 2013 - Issue 6
Submit an article Journal homepage
130
Views
3
CrossRef citations to date
0
Altmetric
Rapid Communication

A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus–dystonia syndrome

Michał Szubiga Department of Medical GeneticsChair of Pediatrics, Jagiellonian University Medical College, Kraków, PolandCorrespondence[email protected]
,
Monika Rudzińska Department of NeurologyJagiellonian University Medical College, Kraków, Poland
,
Mirosław Bik-Multanowski Department of Medical GeneticsChair of Pediatrics, Jagiellonian University Medical College, Kraków, Poland
,
Jacek J Pietrzyk Department of Medical GeneticsChair of Pediatrics, Jagiellonian University Medical College, Kraków, Poland
&
Andrzej Szczudlik Department of NeurologyJagiellonian University Medical College, Kraków, Poland
Pages 659-662 | Published online: 05 Dec 2013

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.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.