Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
Ugo SorrentinoLuigi Michele RomitoBarbara GaravagliaMario FicheraIsabel ColangeloHolger ProkischJuliane WinkelmannJán NecpálRobert JechMichael ZechPublished in: Tremor and other hyperkinetic movements (New York, N.Y.) (2024)
mutation should be included in the differential diagnosis of myoclonic dystonia and ataxia-dystonia syndromes.