Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1990-7-26
|
| pubmed:abstractText |
Two families with the congenital X-linked infantile form of myotubular myopathy have been investigated by linkage analysis using markers from the X-chromosome. Linkage was found at the locus Xq28 (with DXS52). The analysis gave a peak lod score of 2.41 at the recombination fraction zero. Free recombinations (theta = 0.50) were seen using the markers DXS84, DXS14 and DXS146 from the p arm of the X-chromosome. Since the disorder is very rare, it is important to add cumulative linkage data from the few families that do exist.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
0009-9163
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
37
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
335-40
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:1972354-Female,
pubmed-meshheading:1972354-Finland,
pubmed-meshheading:1972354-Genes, Recessive,
pubmed-meshheading:1972354-Genetic Linkage,
pubmed-meshheading:1972354-Humans,
pubmed-meshheading:1972354-Infant, Newborn,
pubmed-meshheading:1972354-Male,
pubmed-meshheading:1972354-Muscle Hypotonia,
pubmed-meshheading:1972354-Pedigree,
pubmed-meshheading:1972354-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1972354-Sweden,
pubmed-meshheading:1972354-X Chromosome
|
| pubmed:year |
1990
|
| pubmed:articleTitle |
X-linked myotubular myopathy: a linkage study.
|
| pubmed:affiliation |
Department of Clinical Genetics, University of Göteborg, Sweden.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|