Article
A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.
Neurological research - 1 Jul 2013
Szubiga Michał, Rudzińska Monika, Bik-Multanowski Mirosław, Pietrzyk Jacek J, Szczudlik Andrzej
Abstract excerpt
OBJECTIVE AND IMPORTANCE: Myoclonus-dystonia syndrome (MDS, DYT11) is an inherited disorder characterized by clinical and genetic heterogeneity. MDS is inherited in autosomal dominant pattern and caused by heterozygous mutations in the gene encoding epsilon-sarcoglycan (SGCE) on chromosome 7q21. SGCE gene mutations are present in about 30-50% patients classified as definite-MDS. Earlier onset of motor symptoms is...
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