Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant
Am J Med Genet A. 2024 Dec 20:e63964. doi: 10.1002/ajmg.a.63964. Online ahead of print. ABSTRACT Myoclonus-dystonia syndrome (MDS, OMIM #159900) is an autosomal-dominant movement disorder …