Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
Messina
S
S
Department of Paediatric Neurology, Catholic University, Rome, Italy.
Tortorella
G
G
Concolino
D
D
Spanò
M
M
D'Amico
A
A
Bruno
C
C
Santorelli
F M
FM
Mercuri
E
E
Bertini
E
E
D000293:Adolescent; D002526:Cerebellar Diseases / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D002648:Child; D049030:Dystroglycans / Q000378:metabolism; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D010641:Phenotype
D049030:Dystroglycans