title: Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?
abstract: We describe 17 individuals from seven families with a slowly progressive, early onset, autosomal dominant myopathy with proximal muscle weakness, calf hypertrophy, contractures, spinal rigidity and, in five of the adult cases, a cardiac conduction defect. A deficiency of the laminin beta 1 chain of the skeletal muscle fibres was found in the older individuals of these families, but not the younger members. Other laminin chains, dystrophin and the dystrophin-associated glycoproteins were normal. The age-related deficiency of the laminin beta 1 is restricted to the skeletal muscle fibres and not the vascular tissue, suggesting that this may be a secondary phenomenon. These findings suggest that a laminin or a laminin-binding protein is implicated in some forms of dominant limb girdle myopathies.
authors.affiliation: Department of Paediatrics and Neonatal Medicine, M.R.C. Clinical Sciences Centre, Royal Postgraduate Medical Centre, London, UK.
authors.forename: J
authors.initials: J
authors.lastname: Taylor
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: S
authors.initials: S
authors.lastname: Robb
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: C
authors.initials: C
authors.lastname: Sewry
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000502:physiology*; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics*; D013116:Spinal Cord / Q000503:physiopathology*
chemical_list: D007797:Laminin