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Target Concepts:
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Query: UNIPROT:P06889 (
Mol
)
630,302
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21-q31 represent the major genetic cause of M-D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M-D family (
DYT15
, 18p11), but no gene has been identified yet. In this review, we discuss genetic aspects of myoclonus-dystonia.
Mol
Neurobiol 2017 03
PMID:Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS). 2679 Jun 71
