title: Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
authors.forename: D
authors.initials: D
authors.lastname: Beltran-Valero de Bernabé
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: C
authors.initials: C
authors.lastname: Longman
authors.forename: A
authors.initials: A
authors.lastname: Steinbrecher
authors.forename: V
authors.initials: V
authors.lastname: Straub
authors.forename: Y
authors.initials: Y
authors.lastname: Yuva
authors.forename: R
authors.initials: R
authors.lastname: Herrmann
authors.forename: J
authors.initials: J
authors.lastname: Sperner
authors.forename: C
authors.initials: C
authors.lastname: Korenke
authors.forename: C
authors.initials: C
authors.lastname: Diesen
authors.forename: W B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: M
authors.initials: M
authors.lastname: Brockington
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases