Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

D. Beltran-Valero de Bernabé, T. Voit, C. Longman, A. Steinbrecher, V. Straub, Y. Yuva, R. Herrmann, J. Sperner, C. Korenke, C. Diesen, W. B. Dobyns, H. G. Brunner, H. van Bokhoven, M. Brockington, F. Muntoni

Research output: Contribution to journalLetter

193 Scopus citations
Original languageEnglish (US)
Pages (from-to)e61
JournalJournal of medical genetics
Volume41
Issue number5
DOIs
StatePublished - May 2004
Externally publishedYes

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Beltran-Valero de Bernabé, D., Voit, T., Longman, C., Steinbrecher, A., Straub, V., Yuva, Y., Herrmann, R., Sperner, J., Korenke, C., Diesen, C., Dobyns, W. B., Brunner, H. G., van Bokhoven, H., Brockington, M., & Muntoni, F. (2004). Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. Journal of medical genetics, 41(5), e61. https://doi.org/10.1136/jmg.2003.013870