| pubmed-article:1822794 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C0026847 | lld:lifeskim |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C0079259 | lld:lifeskim |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C0185283 | lld:lifeskim |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C0917713 | lld:lifeskim |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C0013839 | lld:lifeskim |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:1822794 | lifeskim:mentions | umls-concept:C2699488 | lld:lifeskim |
| pubmed-article:1822794 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:1822794 | pubmed:dateCreated | 1992-9-10 | lld:pubmed |
| pubmed-article:1822794 | pubmed:abstractText | We studied a 29-year-old man with slowly progressive proximal leg weakness, calf hypertrophy, and high serum levels of creatine kinase activity. Clinically, it was not possible to identify his as a sporadic instance of Becker muscular dystrophy (BMD) or one of spinal muscular atrophy. The problem arose because electromyography and elevated creatine kinase suggested a myopathy whereas changes in the muscle biopsy resembled a neurogenic disorder. The diagnosis of BMD was made by DNA analysis which detected a deletion at Xp21 and by immunoelectrophoresis and immunohistochemical tests that identified an abnormal form of gene product, dystrophin. These studies were important for genetic counselling, identifying an X-linked disease instead of one that is autosomal recessive. | lld:pubmed |
| pubmed-article:1822794 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1822794 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1822794 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1822794 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1822794 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1822794 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1822794 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1822794 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1822794 | pubmed:issn | 0960-8966 | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:BonillaEE | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:MinettiCC | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:LovelaceR ERE | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:ChangH WHW | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:HaysA PAP | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:YoungerD SDS | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:UnciniAA | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:MedoriRR | lld:pubmed |
| pubmed-article:1822794 | pubmed:author | pubmed-author:McDonaldT DTD | lld:pubmed |
| pubmed-article:1822794 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1822794 | pubmed:volume | 1 | lld:pubmed |
| pubmed-article:1822794 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1822794 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1822794 | pubmed:pagination | 195-200 | lld:pubmed |
| pubmed-article:1822794 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
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| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
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| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:meshHeading | pubmed-meshheading:1822794-... | lld:pubmed |
| pubmed-article:1822794 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:1822794 | pubmed:articleTitle | Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy. | lld:pubmed |
| pubmed-article:1822794 | pubmed:affiliation | Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032. | lld:pubmed |
| pubmed-article:1822794 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1822794 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1822794 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1822794 | lld:pubmed |
