Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis.
Paediatrics, Asklepios Clinik, Arnold Janssen Strasse 29, Sankt Augustin, Germany. suaadelarbi@yahoo.com
S
S
El Arbi
A
A
Demant
N
N
Kohlschmidt
G
G
Horneff
D001284:Atrophy; D020029:Base Pairing / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005625:Frontal Lobe / Q000473:pathology; D020234:Gait Ataxia / Q000175:diagnosis*; D054522:Group VI Phospholipases A2 / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis* / Q000235:genetics; D013702:Temporal Lobe / Q000473:pathology; D014633:Valine / Q000235:genetics
D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human; D014633:Valine