Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity
- 23 April 2003
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 18 (9) , 1047-1051
- https://doi.org/10.1002/mds.10476
Abstract
The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus–dystonia. To evaluate the relevance of SGCE in myoclonus–dystonia, we sequenced the entire coding region of the ϵ‐sarcoglycan gene in 16 patients with either sporadic or familial myoclonus–dystonia. No mutations were found. This study suggests that ϵ‐sarcoglycan does not play an important role in sporadic myoclonus–dystonia and supports genetic heterogeneity in familial cases. © 2003 Movement Disorder SocietyKeywords
This publication has 18 references indexed in Scilit:
- Myoclonus dystoniaNeurology, 2002
- Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndromeNature Genetics, 2001
- Inherited myoclonus-dystonia syndrome: Narrowing the 7q21-q31 locus in German familiesAnnals of Neurology, 2001
- D2 dopamine receptor gene in myoclonic dystonia and essential myoclonusAnnals of Neurology, 2000
- Evaluation of the role of the D2 dopamine receptor in myoclonus dystoniaAnnals of Neurology, 2000
- Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31Annals of Neurology, 1999
- ε-Sarcoglycan Replaces α-Sarcoglycan in Smooth Muscle to Form a Unique Dystrophin-Glycoprotein ComplexPublished by Elsevier ,1999
- ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2DJournal of Biological Chemistry, 1997
- Essential myoclonus and myoclonus dystoniaMovement Disorders, 1996
- Myoclonic dystoniaNeurology, 1983