1.
Neurology
; 60(12): 1988-90, 2003 Jun 24.
Article
in English
| MEDLINE
| ID: mdl-12821748
ABSTRACT
A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.
Subject(s)
Cytoskeletal Proteins/genetics , Dystonic Disorders/genetics , Epilepsies, Myoclonic/genetics , Frameshift Mutation , Membrane Glycoproteins/genetics , Adult , Amnesia/etiology , Brain/pathology , Brain/physiopathology , Chromosomes, Human, Pair 18/genetics , Cytoskeletal Proteins/deficiency , Cytoskeletal Proteins/physiology , Dystonic Disorders/physiopathology , Electroencephalography , Epilepsies, Myoclonic/physiopathology , Epilepsy, Complex Partial/genetics , Exons/genetics , Female , Genes, Dominant , Genetic Heterogeneity , Genotype , Haplotypes/genetics , Humans , Lod Score , Magnetic Resonance Imaging , Male , Membrane Glycoproteins/deficiency , Membrane Glycoproteins/physiology , Mutagenesis, Insertional , Netherlands , Pedigree , Sarcoglycans
2.
Ned Tijdschr Geneeskd
; 124(4): 127-30, 1980 Jan 26.
Article
in Dutch
| MEDLINE
| ID: mdl-7374836
Subject(s)
Dominance, Cerebral , Functional Laterality , Animals , Brain Chemistry , Humans , Mental Processes
3.
Ned Tijdschr Geneeskd
; 121(17): 718-9, 1977 Apr 23.
Article
in Dutch
| MEDLINE
| ID: mdl-854121
