TY  - JOUR 
AU  - Mencacci, Niccolo E.
AU  - Bandrés Ciga, Sara
PY  - 2015
UR  - http://hdl.handle.net/10481/63188
AB  - Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%–50% of cases. After excluding SGCE...
LA  - eng
PB  - Elsevier
TI  - A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
DO  - 10.1016/j.ajhg.2015.04.008
ER  -