A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report

de Leon, MAJ; Rosales, RL; Klein, C; Westenberger, A

de Leon, MAJ (通讯作者),Univ Santo Tomas Hosp, Neurosci Inst, Dept Neurosci & Behav Med, Espana Blvd, Manila 1015, Metro Manila, Philippines.

BMC NEUROLOGY, 2022; 22 (1):

Abstract

Background Myoclonus-dystonia is a rare movement disorder with an autosomal dominant inheritance pattern characterized by a combination of myoclonic j......

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