Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12768
Abstract: Myoclonus dystonia (MD) is a rare movement disorder characterized by alcohol-responsive myoclonic jerks, dystonia, and psychiatric complaints, which is often associated with an autosomal-dominant pathogenic variant (mutation) in the epsilon-sarcoglycan gene (SGCE), located on chromosome… read more here.
Keywords: uniparental disomy; mupd7; silver syndrome; russell silver ... See more keywords