Large deletions account for an increasing number of mutations inSGCE
- 20 December 2007
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 23 (3) , 456-460
- https://doi.org/10.1002/mds.21895
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinAHuman Molecular Genetics, 2007
- Myoclonus‐dystonia due to genomic deletions in the epsilon‐sarcoglycan geneAnnals of Neurology, 2005
- Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromesJournal of Medical Genetics, 2005
- Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with17p11.2 rearrangementsAmerican Journal of Medical Genetics Part A, 2005
- Genetic heterogeneity in ten families with myoclonus-dystoniaJournal of Neurology, Neurosurgery & Psychiatry, 2004
- Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentationMovement Disorders, 2004
- Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneityMovement Disorders, 2003
- Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21American Journal of Medical Genetics Part A, 2003
- Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotypeAnnals of Neurology, 2002
- HEREDITARY ESSENTIAL MYOCLONUSBrain, 1967