Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

✍ Scribed by Ute Hehr; Goekhan Uyanik; Claudia Gross; Maggie C. Walter; Axel Bohring; Monika Cohen; Barbara Oehl-Jaschkowitz; Lynne M. Bird; Ghiat M. Shamdeen; Ulrich Bogdahn; Gerhard Schuierer; Haluk Topaloglu; Ludwig Aigner; Hanns Lochmüller; Jürgen Winkler

• Publisher: Springer
• Year: 2007
• Tongue: English
• Weight: 411 KB
• Volume: 8
• Category: Article
• ISSN: 1364-6745
• DOI: 10.1007/s10048-007-0096-y