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myoclonus-dystonia

 
Myoclonus-dystonia is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements. The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmission, suggesting a putative maternal imprinting mechanism.

Etiology

-  mutations in the epsilon-sarcoglycan gene (SGCE)

Références: #12444570#


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