Associated Papers
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
Waite A et al.
Human Mutation, 2011
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Nardocci N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
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