C. Godfrey, E. Clement u. a.: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. In: Brain : a journal of neurology. Band 130, Pt 10Oktober 2007, S. 2725–2735, ISSN1460-2156. doi:10.1093/brain/awm212. PMID 17878207.
E. Mercuri, S. Messina u. a.: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. In: Neurology. Band 72, Nummer 21, Mai 2009, S. 1802–1809, ISSN1526-632X. doi:10.1212/01.wnl.0000346518.68110.60. PMID 19299310.
F. Silan, M. Yoshioka u. a.: A new mutation of the fukutin gene in a non-Japanese patient. In: Annals of neurology. Band 53, Nummer 3, März 2003, S. 392–396, ISSN0364-5134. doi:10.1002/ana.10491. PMID 12601708.
R. P. Cotarelo, M. C. Valero u. a.: Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. In: Clinical genetics. Band 73, Nummer 2, Februar 2008, S. 139–145, ISSN1399-0004. doi:10.1111/j.1399-0004.2007.00936.x. PMID 18177472.
J. van Reeuwijk, P. K. Grewal u. a.: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. In: Human genetics. Band 121, Nummer 6, Juli 2007, S. 685–690, ISSN0340-6717. doi:10.1007/s00439-007-0362-y. PMID 17436019. PMC 191424 (freier Volltext).
J. Amberger, C. Bocchini, A. Hamosh: A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). In: Human mutation. Band 32, Nummer 5, Mai 2011, S. 564–567, ISSN1098-1004. doi:10.1002/humu.21466. PMID 21472891.
D. S. Kim, Y. K. Hayashi u. a.: POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. In: Neurology Band 62, Nummer 6, März 2004, S. 1009–1011, ISSN1526-632X. PMID 15037715.
C. Godfrey, E. Clement u. a.: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. In: Brain : a journal of neurology. Band 130, Pt 10Oktober 2007, S. 2725–2735, ISSN1460-2156. doi:10.1093/brain/awm212. PMID 17878207.
E. Mercuri, S. Messina u. a.: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. In: Neurology. Band 72, Nummer 21, Mai 2009, S. 1802–1809, ISSN1526-632X. doi:10.1212/01.wnl.0000346518.68110.60. PMID 19299310.
F. Silan, M. Yoshioka u. a.: A new mutation of the fukutin gene in a non-Japanese patient. In: Annals of neurology. Band 53, Nummer 3, März 2003, S. 392–396, ISSN0364-5134. doi:10.1002/ana.10491. PMID 12601708.
D. B. de Bernabé, H. van Bokhoven u. a.: A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. In: Journal of medical genetics. Band 40, Nummer 11, November 2003, S. 845–848, ISSN1468-6244. PMID 14627679. PMC 173530 (freier Volltext).
R. P. Cotarelo, M. C. Valero u. a.: Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. In: Clinical genetics. Band 73, Nummer 2, Februar 2008, S. 139–145, ISSN1399-0004. doi:10.1111/j.1399-0004.2007.00936.x. PMID 18177472.
B. Cormand, H. Pihko u. a.: Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. In: Neurology. Band 56, Nummer 8, April 2001, S. 1059–1069, ISSN0028-3878. PMID 11320179.
J. van Reeuwijk, P. K. Grewal u. a.: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. In: Human genetics. Band 121, Nummer 6, Juli 2007, S. 685–690, ISSN0340-6717. doi:10.1007/s00439-007-0362-y. PMID 17436019. PMC 191424 (freier Volltext).
J. Amberger, C. Bocchini, A. Hamosh: A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). In: Human mutation. Band 32, Nummer 5, Mai 2011, S. 564–567, ISSN1098-1004. doi:10.1002/humu.21466. PMID 21472891.
D. S. Kim, Y. K. Hayashi u. a.: POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. In: Neurology Band 62, Nummer 6, März 2004, S. 1009–1011, ISSN1526-632X. PMID 15037715.
C. Godfrey, E. Clement u. a.: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. In: Brain : a journal of neurology. Band 130, Pt 10Oktober 2007, S. 2725–2735, ISSN1460-2156. doi:10.1093/brain/awm212. PMID 17878207.
E. Mercuri, S. Messina u. a.: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. In: Neurology. Band 72, Nummer 21, Mai 2009, S. 1802–1809, ISSN1526-632X. doi:10.1212/01.wnl.0000346518.68110.60. PMID 19299310.
F. Silan, M. Yoshioka u. a.: A new mutation of the fukutin gene in a non-Japanese patient. In: Annals of neurology. Band 53, Nummer 3, März 2003, S. 392–396, ISSN0364-5134. doi:10.1002/ana.10491. PMID 12601708.
D. B. de Bernabé, H. van Bokhoven u. a.: A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. In: Journal of medical genetics. Band 40, Nummer 11, November 2003, S. 845–848, ISSN1468-6244. PMID 14627679. PMC 173530 (freier Volltext).
R. P. Cotarelo, M. C. Valero u. a.: Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. In: Clinical genetics. Band 73, Nummer 2, Februar 2008, S. 139–145, ISSN1399-0004. doi:10.1111/j.1399-0004.2007.00936.x. PMID 18177472.
B. Cormand, H. Pihko u. a.: Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. In: Neurology. Band 56, Nummer 8, April 2001, S. 1059–1069, ISSN0028-3878. PMID 11320179.
J. van Reeuwijk, P. K. Grewal u. a.: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. In: Human genetics. Band 121, Nummer 6, Juli 2007, S. 685–690, ISSN0340-6717. doi:10.1007/s00439-007-0362-y. PMID 17436019. PMC 191424 (freier Volltext).
J. Amberger, C. Bocchini, A. Hamosh: A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). In: Human mutation. Band 32, Nummer 5, Mai 2011, S. 564–567, ISSN1098-1004. doi:10.1002/humu.21466. PMID 21472891.