POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J. van Reeuwijk; M.H.M. Janssen; C. van den Elzen; D. de Beltran-Valero Bernabe; P. Sabatelli; L. Merlini; ME Boon; H. Scheffer; M. Brockington; F. Muntoni; M. Huynen; A. Verrips; C.E. Walsh; P.G. Barth; H.G. Brunner; H. van Bokhoven

doi:10.1136/jmg.2005.031963

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J. van Reeuwijk, M.H.M. Janssen, C. van den Elzen, D. de Beltran-Valero Bernabe, P. Sabatelli, L. Merlini, ME Boon, H. Scheffer, M. Brockington, F. Muntoni, M. Huynen, A. Verrips, C.E. Walsh, P.G. Barth, H.G. Brunner, H. van Bokhoven

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Original language	English
Pages (from-to)	907-12
Journal	Journal of Medical Genetics
Volume	42
Issue number	12
DOIs	https://doi.org/10.1136/jmg.2005.031963
Publication status	Published - 2005

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van Reeuwijk, J., Janssen, M. H. M., van den Elzen, C., de Beltran-Valero Bernabe, D., Sabatelli, P., Merlini, L., Boon, ME., Scheffer, H., Brockington, M., Muntoni, F., Huynen, M., Verrips, A., Walsh, C. E., Barth, P. G., Brunner, H. G., & van Bokhoven, H. (2005). POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. Journal of Medical Genetics, 42(12), 907-12. https://doi.org/10.1136/jmg.2005.031963

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title = "POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome",

author = "{van Reeuwijk}, J. and M.H.M. Janssen and {van den Elzen}, C. and {de Beltran-Valero Bernabe}, D. and P. Sabatelli and L. Merlini and ME Boon and H. Scheffer and M. Brockington and F. Muntoni and M. Huynen and A. Verrips and C.E. Walsh and P.G. Barth and H.G. Brunner and {van Bokhoven}, H.",

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doi = "10.1136/jmg.2005.031963",

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van Reeuwijk, J, Janssen, MHM, van den Elzen, C, de Beltran-Valero Bernabe, D, Sabatelli, P, Merlini, L, Boon, ME, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M, Verrips, A, Walsh, CE, Barth, PG, Brunner, HG & van Bokhoven, H 2005, 'POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome', Journal of Medical Genetics, vol. 42, no. 12, pp. 907-12. https://doi.org/10.1136/jmg.2005.031963

TY - JOUR

T1 - POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

AU - van Reeuwijk, J.

AU - Janssen, M.H.M.

AU - van den Elzen, C.

AU - de Beltran-Valero Bernabe, D.

AU - Sabatelli, P.

AU - Merlini, L.

AU - Boon, ME

AU - Scheffer, H.

AU - Brockington, M.

AU - Muntoni, F.

AU - Huynen, M.

AU - Verrips, A.

AU - Walsh, C.E.

AU - Barth, P.G.

AU - Brunner, H.G.

AU - van Bokhoven, H.

PY - 2005

Y1 - 2005

U2 - 10.1136/jmg.2005.031963

DO - 10.1136/jmg.2005.031963

M3 - Article

SN - 0022-2593

VL - 42

SP - 907

EP - 912

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 12

ER -