title: Congenital muscular dystrophy and cerebellar atrophy.
abstract: Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.
authors.affiliation: Department of Neuropediatrics, Höpital St. Eloi, Montpellier, France.
authors.forename: B
authors.initials: B
authors.lastname: Echenne
authors.forename: F
authors.initials: F
authors.lastname: Rivier
authors.forename: M
authors.initials: M
authors.lastname: Tardieu
authors.forename: M
authors.initials: M
authors.lastname: Brive
authors.forename: A
authors.initials: A
authors.lastname: Robert
authors.forename: A M
authors.initials: AM
authors.lastname: Pages
authors.forename: F
authors.initials: F
authors.lastname: Pons
authors.forename: D
authors.initials: D
authors.lastname: Mornet
mesh_terms: D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital*