Article
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
Neurology - 25 Mar 2008
Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S, De Greslan T, Jedynak C P, Ponsot G, Dussaule J C, Brice A, Dürr A, Vidailhet M
Abstract excerpt
OBJECTIVE: To clarify the clinical and neurophysiologic spectrum of myoclonus-dystonia patients with mutations of the SGCE gene. METHODS: We prospectively studied 41 consecutive patients from 22 families with documented mutations of the SGCE gene. The patients had a standardized interview, neurologic examination, and detailed neurophysiologic examination, including surface polymyography, long-loop C-reflex...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.