Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

Author:

Zimprich Alexander,Grabowski Monika,Asmus Friedrich,Naumann Markus,Berg Daniela,Bertram Markus,Scheidtmann Karl,Kern Peter,Winkelmann Juliane,Müller-Myhsok Bertram,Riedel Leonhard,Bauer Matthias,Müller Tanja,Castro Mirna,Meitinger Thomas,Strom Tim M.,Gasser Thomas

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference27 articles.

1. Ozelius, L. et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet. 17, 40–48 (1997).

2. Ichinose, H. et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet. 8, 236–242 (1994).

3. Ludecke, B., Dworniczak, B. & Bartholome, K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet. 95, 123–125 (1995).

4. Gasser, T. Inherited myoclonus-dystonia syndrome. Adv. Neurol. 78, 325–334 (1998).

5. Quinn, N.P., Rothwell, J.C., Thompson, P.D. & Marsden, C.D. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv. Neurol. 50, 391–401 (1988).

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