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

Meliza Angelica J de Leon, Raymond L Rosales, Christine Klein, Ana Westenberger
BMC Neurol. 2022 Jan 5;22(1):11. doi: 10.1186/s12883-021-02530-z.
https://pubmed.ncbi.nlm.nih.gov/34986800/