Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria

Author:

Carecchio Miryam12,Magliozzi Monia3,Copetti Massimiliano4,Ferraris Alessandro3,Bernardini Laura3,Bonetti Monica3,Defazio Giovanni5,Edwards Mark J.1,Torrente Isabella3,Pellegrini Fabio46,Comi Cristoforo2,Bhatia Kailash P.1,Valente Enza Maria37

Affiliation:

1. Sobell Department of Motor Neuroscience and Movement Disorders; UCL Institute of Neurology; London United Kingdom

2. Department of Neurology; Amedeo Avogadro University; Novara Italy

3. CSS-Mendel Laboratory; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo Italy

4. Biostatistics Unit; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo Italy

5. Department of Neurosciences and Sensory Organs; School of Motor Sciences; “Aldo Moro” University of Bari; Bari Italy

6. Laboratory of Clinical Epidemiology of Diabetes and Chronic Diseases; Consorzio Mario Negri Sud; Santa Maria Imbaro Italy

7. Department of Medicine and Surgery; University of Salerno; Salerno Italy

Funder

Italian Ministry of Health (Ricerca Corrente 2013) and the Dystonia coalition grant

Department of Health's NIHR Biomedical Research Centres' funding scheme

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference37 articles.

1. Inherited myoclonus-dystonia;Asmus;Adv Neurol,2004

2. Myoclonus-dystonia: an update;Kinugawa;Mov Disord,2009

3. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31;Nygaard;Ann Neurol,1999

4. A novel locus for inherited myoclonus-dystonia on 18p11;Grimes;Neurology,2002

5. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome;Zimprich;Nat Genet,2001

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