Article
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
European journal of human genetics : EJHG - 1 Apr 2011
Ritz Katja, van Schaik Barbera Dc, Jakobs Marja E, van Kampen Antoine H, Aronica Eleonora, Tijssen Marina A, Baas Frank
Abstract excerpt
Myoclonus-dystonia (M-D) is a neurological movement disorder with involuntary jerky and dystonic movements as major symptoms. About 50% of M-D patients have a mutation in ɛ-sarcoglycan (SGCE), a maternally imprinted gene that is widely expressed. As little is known about SGCE function, one can only speculate about the pathomechanisms of the exclusively neurological phenotype in M-D. We characterized different...
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