SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

<p>Myoclonus-dystonia syndrome (MDS) is a genetically heterogeneous disorder characterized by myoclonic jerks often seen in combination with dystonia and psychiatric co-morbidities and epilepsy. Mutations in the gene encoding ε-sarcoglycan (<em>SGCE</em>) have been found in some pa...

书目详细资料
Main Authors:	Esapa, C, Waite, A, Locke, M, Benson, M, Kraus, M, McIlhinney, R, Sillitoe, R, Beesley, P, Blake, D
格式:	Journal article
语言:	English
出版:	Oxford University Press 2007
主题:	Genetics (medical sciences) Medical Sciences

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