Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria

Movement Disorders

Volumn 28, Issue 6, 2013, Pages 787-794

  Carecchio, Miryam ^a,b   Magliozzi, Monia ^c   Copetti, Massimiliano ^c   Ferraris, Alessandro ^c   Bernardini, Laura ^c   Bonetti, Monica ^c   Defazio, Giovanni ^d   Edwards, Mark J ^a   Torrente, Isabella ^c   Pellegrini, Fabio ^c,e   Comi, Cristoforo ^b   Bhatia, Kailash P ^a   Valente, Enza Maria ^c,f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d UNIVERSITY OF BARI   (Italy)

^e Laboratory of Clinical Epidemiology of Diabetes and Chronic Diseases   (Italy)

^f UNIVERSITY OF SALERNO   (Italy)

Author keywords

Diagnostic model; Epsilon sarcoglycan; Gene deletion; Genetic testing; Myoclonus dystonia; ROC curves; SGCE

Indexed keywords

EPSILON SARCOGLYCAN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOCLONUS DYSTONIA; ONSET AGE; PHENOTYPE; POINT MUTATION; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

ADULT; DYSTONIC DISORDERS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; REPRODUCIBILITY OF RESULTS; ROC CURVE; SARCOGLYCANS; SENSITIVITY AND SPECIFICITY;

EID: 84879603088     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25506     Document Type: Article

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