Linked Life Data

9196901

Source:http://linkedlifedata.com/resource/pubmed/id/9196901

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-8-7
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
211-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?
pubmed:affiliation
Department of Paediatrics and Neonatal Medicine, M.R.C. Clinical Sciences Centre, Royal Postgraduate Medical Centre, London, UK.
pubmed:publicationType
Journal Article, Case Reports