A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.
Murat GultekinNeha PrakashChristos GanosMeral MirzaArslan BayramKailash P BhatiaNiccolò E MencacciPublished in: Movement disorders clinical practice (2019)
Intrafamilial clinical variability, despite the same pathogenic variant described in this work, suggests that there are regulatory factors, epigenetic or environmental modifiers, which are the subject of a matter for future studies.