(888) 440-0954


Progressive nonparoxysmal chorea and dystonia due to myofibrillogenesis regulator-1 gene mutation

Parkinsonism & related disorders, Vol. 60, Pages 186-187, 2018

PMID: 30174277

Mutations in the myofibrillogenesis regulator gene (MR-1) causes paroxysmal non -kinesigenic dyskinesia (PNKD) characterized by episodic (paroxysmal) attacks of any combination of chorea, dystonia and athetosis (MR-1/PNKD) [1]. This gene is transcribed into three alternatively spliced isoforms: long (MR-1L), medium (MR-1M) and small (MR-1S) [2,3].

Read More


Considering Genomic Research?

    Fields marked in * is mandatory to fill

    2024 © MedGenome • All Rights Reserved
    Request a Quote