title: Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.
abstract: Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.
authors.affiliation: Kent and Canterbury Hospital, Department of Neurology, London, UK.
authors.forename: L
authors.initials: L
authors.lastname: Nashef
authors.forename: B D
authors.initials: BD
authors.lastname: Lake
authors.forename: A H
authors.initials: AH
authors.lastname: Schapira
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital*; D009679:Nuclear Family; D014103:Torticollis