Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.
Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.
Kock
Norman
N
Department of Neurology, University of Schleswig-Holstein, Lübeck, Germany.
Kasten
Meike
M
Schüle
Birgitt
B
Hedrich
Katja
K
Wiegers
Karin
K
Kabakci
Kemal
K
Hagenah
Johann
J
Pramstaller
Peter P
PP
Nitschke
Matthias F
MF
Münchau
Alexander
A
Sperner
Jürgen
J
Klein
Christine
C
D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003598:Cytoskeletal Proteins / Q000235:genetics*; D018450:Disease Progression; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005220:Fathers; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D016254:Mutagenesis, Insertional / Q000235:genetics; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics; D049031:Sarcoglycans; D014103:Torticollis / Q000175:diagnosis / Q000235:genetics; D014743:Videotape Recording
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans