Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?

Neuromuscul Disord. 1997 Jun;7(4):211-6. doi: 10.1016/s0960-8966(97)00461-6.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Female
  • Genes, Dominant*
  • Humans
  • Immunohistochemistry
  • Laminin / physiology*
  • Male
  • Middle Aged
  • Muscular Diseases / genetics*
  • Spinal Cord / physiopathology*

Substances

  • Laminin