Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report.
Eva KlinmanCatherine GoochJoel S PerlmutterAlbert A DavisBaijayanta MaitiPublished in: Neurology. Genetics (2024)
Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.