Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease-Reference-Cited by-同舟云学术

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

Published:2007-09-29 Issue:4 Volume:8 Page:279-288
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-007-0096-y.pdf

Reference32 articles.

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3. Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T (2003) Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease. Hum Mol Genet 12:527–534

4. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG (2002) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71:1033–1043

5. van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L (2005) POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome. J Med Genet 42:907–912

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