The epsilon-sarcoglycan gene in myoclonic syndromes.
Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (three of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.
Valente
E M
EM
IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy.
Edwards
M J
MJ
Mir
P
P
DiGiorgio
A
A
Salvi
S
S
Davis
M
M
Russo
N
N
Bozi
M
M
Kim
H-T
HT
Pennisi
G
G
Quinn
N
N
Dallapiccola
B
B
Bhatia
K P
KP
D017668:Age of Onset; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D020821:Dystonic Disorders / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009207:Myoclonus / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics* / Q000502:physiology; D017384:Sequence Deletion
D022821:RNA Splice Sites; D049031:Sarcoglycans