Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers.
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
M C F
MC
Gerrits
E M J
EM
Foncke
R
R
de Haan
K
K
Hedrich
Y L C
YL
van de Leemput
F
F
Baas
L J
LJ
Ozelius
J D
JD
Speelman
C
C
Klein
M A J
MA
Tijssen
D017668:Age of Onset; D017398:Alternative Splicing; D004421:Dystonia / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D009154:Mutation; D009207:Myoclonus / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D049031:Sarcoglycans / Q000235:genetics*; D017384:Sequence Deletion
D049031:Sarcoglycans