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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Beltran-Valero de Bernabé D, et al. Among authors: diesen c. J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870. J Med Genet. 2004. PMID: 15121789 Free PMC article. No abstract available.
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. Diesen C, et al. J Med Genet. 2004 Oct;41(10):e115. doi: 10.1136/jmg.2004.020701. J Med Genet. 2004. PMID: 15466003 Free PMC article. No abstract available.