Linked Life Data

8000914

Source:http://linkedlifedata.com/resource/pubmed/id/8000914

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1995-1-24
pubmed:abstractText
Congenital muscular dystrophy is one of the most frequent and severe childhood muscular dystrophies. Several forms of this disease have been described. The form associated with marked central nervous system disturbances, frequent in Japan, is known as Fukuyama congenital muscular dystrophy and was recently linked to chromosome 9. The most frequent form observed in occidental countries appears to be clinically characterized by exclusive involvement of skeletal muscle, and has been identified by clinico-pathological features which are often fallacious. A predominant histopathological feature is the marked increase in endomysial collagen tissue. We investigate whether laminin, a major component of the extracellular matrix, which is linked to the subsarcolemmal cytoskeleton by a large oligomeric complex of dystrophin-associated glycoproteins, could be involved in this form. We observed a specific absence of merosin, the laminin M chain, in 13 patients affected by classical non-Japanese form of congenital muscular dystrophy. This result allows the precise identification of a particular form of congenital muscular dystrophy and gives a clue to understanding its molecular pathogenesis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0764-4469
pubmed:author
pubmed:issnType
Print
pubmed:volume
317
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
351-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Congenital muscular dystrophy with merosin deficiency.
pubmed:affiliation
INSERM U. 153, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't