Newcastle University

Publication:

Unusual features in a boy with the rapsyn N88K mutation (2006)

Author(s): Skeie GO, Aurlien H, Muller JS, Lochmuller H, Norgard G, Bindoff LA

• Date: 26-12-2006
• Journal: Neurology
• Volume: 67
• Issue: 12
• Pages: 2262-2263
• Publisher: Lippincott Williams & Wilkins
• Publication type: Article
• Bibliographic status: Published

• Author Address: Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.
• URL: http://dx.doi.org/10.1212/01.wnl.0000249184.09369.c2
• DOI: 10.1212/01.wnl.0000249184.09369.c2
• ISSN (electronic): 1526-632X

Keywords: Adolescent Adult Child Child, Preschool Diplopia/ diagnosis/ genetics Genetic Predisposition to Disease/genetics Humans Infant Infant, Newborn Male Muscle Proteins/ genetics Muscle Weakness/ diagnosis/ genetics Mutation

Staff

Professor Hanns Lochmuller Professor of Experimental Myology	Email: hanns.lochmuller@ncl.ac.uk Telephone: +44 (0) 191 241 8602
Dr Juliane Mueller Research Associate	Email: juliane.mueller@ncl.ac.uk Telephone: +44 (0) 191 241 8833