
SGCE Myoclonus-Dystonia - GeneReviews® - NCBI Bookshelf
May 21, 2003 · SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus), and/or sustained twisting and …
SGCE gene - MedlinePlus
The SGCE gene provides instructions for making a protein called epsilon (ε)-sarcoglycan, whose function is unknown. The ε-sarcoglycan protein is found within the outer membrane of cells in …
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SGCE Gene - GeneCards | SGCE Protein | SGCE Antibody
Mar 30, 2025 · SGCE (Sarcoglycan Epsilon) is a Protein Coding gene. Diseases associated with SGCE include Dystonia 11, Myoclonic and Sgce Myoclonus-Dystonia. Gene Ontology (GO) …
SGCE - Wikipedia
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene. [5] [6] [7] The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane …
SGCE and myoclonus dystonia: motor characteristics, diagnostic …
Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest …
Myoclonus–dystonia syndrome: Clinical presentation, disease …
Jan 25, 2008 · Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important …
SGCE Myoclonus-Dystonia | Neurology
Dec 14, 2021 · SGCE myoclonus-dystonia, an autosomal dominant disorder, manifests with a combination of myoclonus and/or dystonia. 1 Myoclonus involves arms and neck muscles. 2 …
SGCE mutations cause psychiatric disorders: clinical and genetic ...
Jan 28, 2013 · Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder characterized by predominant alcohol responsive upper body myoclonus and …
Myoclonus-dystonia: MedlinePlus Genetics
SGCE gene mutations that cause myoclonus-dystonia result in a shortage (deficiency) of functional ε-sarcoglycan protein. This lack of functional protein seems to affect the regions of …