Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Beltran-Valero de Bernabé
D
D
Voit
T
T
Longman
C
C
Steinbrecher
A
A
Straub
V
V
Yuva
Y
Y
Herrmann
R
R
Sperner
J
J
Korenke
C
C
Diesen
C
C
Dobyns
W B
WB
Brunner
H G
HG
van Bokhoven
H
H
Brockington
M
M
Muntoni
F
F
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
D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases