Linked Life Data

7908614

Source:http://linkedlifedata.com/resource/pubmed/id/7908614

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-5-10
pubmed:abstractText
A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the clinically healthy mother, who nevertheless showed discrete signs of myopathy, was demonstrated. DNA analysis excluded maternal uniparental disomy for loci on both chromosomes 10 and 17. We suggest that the translocation breakpoints are candidate regions for a myopathy gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
11-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions.
pubmed:affiliation
Department of Clinical Chemistry, Odense University Hospital, Denmark.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't