[Congenital muscular dystrophies: muscle-eye-brain disease].
Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. We report on two brothers with MEB. The clinical and radiological characteristics are demonstrated.
Meyer
S
S
Klinik für Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum des Saarlandes. sascha.meyer@uniklinik-saarland.de
Struffert
T
T
Uyanik
G
G
Oehl-Jaschkowitz
B
B
Hehr
U
U
Shamdeen
M G
MG
D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D003937:Diagnosis, Differential; D004576:Electromyography; D005091:Exons; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D017354:Point Mutation
D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase