| pubmed-article:1415326 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C0015780 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C0205474 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C0079259 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C0013264 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C0043297 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C1742737 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C1882115 | lld:lifeskim |
| pubmed-article:1415326 | lifeskim:mentions | umls-concept:C0332120 | lld:lifeskim |
| pubmed-article:1415326 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:1415326 | pubmed:dateCreated | 1992-11-13 | lld:pubmed |
| pubmed-article:1415326 | pubmed:abstractText | A 4-year-old girl was identified with high creatine kinase (CK) values, and mild muscle weakness in a limb-girdle distribution. Results of dystrophin analysis of the muscle biopsy were consistent with a manifesting heterozygote for Duchenne muscular dystrophy. In peripheral lymphocytes she had a t(X;12) (p21.2;q24.33). Late DNA replication studies demonstrated inactivation of the normal X chromosome in 99.4% of cells. Dystrophin immunofluorescence showed 64% dystrophin-negative muscle fibers. Dystrophin content of muscle by immunoblot was approximately 5% of normal. The discordance between the percent of normal X inactivation and percent of dystrophin-negative cells may be explained by compensatory protection of dystrophin by rare nuclei with the normal X active in multi-nucleated muscle fibers with shared cytoplasm. | lld:pubmed |
| pubmed-article:1415326 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1415326 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1415326 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1415326 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1415326 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1415326 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1415326 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:1415326 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:1415326 | pubmed:author | pubmed-author:WengerS LSL | lld:pubmed |
| pubmed-article:1415326 | pubmed:author | pubmed-author:WesselH BHB | lld:pubmed |
| pubmed-article:1415326 | pubmed:author | pubmed-author:HoffmanE PEP | lld:pubmed |
| pubmed-article:1415326 | pubmed:author | pubmed-author:SteeleM WMW | lld:pubmed |
| pubmed-article:1415326 | pubmed:author | pubmed-author:BarmadaM AMA | lld:pubmed |
| pubmed-article:1415326 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1415326 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:1415326 | pubmed:volume | 43 | lld:pubmed |
| pubmed-article:1415326 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1415326 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1415326 | pubmed:pagination | 1012-5 | lld:pubmed |
| pubmed-article:1415326 | pubmed:dateRevised | 2005-11-17 | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:meshHeading | pubmed-meshheading:1415326-... | lld:pubmed |
| pubmed-article:1415326 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1415326 | pubmed:articleTitle | X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers. | lld:pubmed |
| pubmed-article:1415326 | pubmed:affiliation | Division of Medical Genetics, Children's Hospital of Pittsburgh, PA 15213-2583. | lld:pubmed |
| pubmed-article:1415326 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1415326 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1415326 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1415326 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1415326 | lld:pubmed |
