title: Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Messina
authors.forename: G
authors.initials: G
authors.lastname: Tortorella
authors.forename: D
authors.initials: D
authors.lastname: Concolino
authors.forename: M
authors.initials: M
authors.lastname: Spanò
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: 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
chemical_list: D049030:Dystroglycans