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Neuromuscul Disord. 1997 Jun;7(4):211-6.

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

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  • 1Department of Paediatrics and Neonatal Medicine, M.R.C. Clinical Sciences Centre, Royal Postgraduate Medical Centre, London, UK.

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.

PMID:
9196901
[PubMed - indexed for MEDLINE]
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