21708040

Source:http://linkedlifedata.com/resource/pubmed/id/21708040

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0020792, umls-concept:C0026882, umls-concept:C0205145, umls-concept:C0205314, umls-concept:C0439660, umls-concept:C0679622, umls-concept:C0796345, umls-concept:C1428183, umls-concept:C1513388, umls-concept:C1833672
pubmed:dateCreated	2011-7-21
pubmed:abstractText	Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/, http://linkedlifedata.com/resource/pubmed/grant/K08 NS048180, http://linkedlifedata.com/resource/pubmed/grant/P30-HD18655, http://linkedlifedata.com/resource/pubmed/grant/P50-NS40828
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pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/100968552
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Multienzyme Complexes, http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites, http://linkedlifedata.com/resource/pubmed/chemical/UDP-N-acetylglucosamine...
pubmed:status	MEDLINE
pubmed:issn	1471-2350
pubmed:author	pubmed-author:BoydenSteven ESE, pubmed-author:EstrellaElicia AEA, pubmed-author:HarukuniIzumiI, pubmed-author:KangPeter BPB, pubmed-author:KatzJonathan SJS, pubmed-author:KunkelLouis MLM, pubmed-author:LidovHart G WHG, pubmed-author:MahoneyLane JLJ
pubmed:issnType	Electronic
pubmed:volume	12
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	87
pubmed:meshHeading	pubmed-meshheading:21708040-Humans, pubmed-meshheading:21708040-Aged, pubmed-meshheading:21708040-Mutation, pubmed-meshheading:21708040-Female, pubmed-meshheading:21708040-Male, pubmed-meshheading:21708040-Genes, Recessive, pubmed-meshheading:21708040-Adult, pubmed-meshheading:21708040-Middle Aged, pubmed-meshheading:21708040-Pedigree, pubmed-meshheading:21708040-Heterozygote, pubmed-meshheading:21708040-Genetic Linkage, pubmed-meshheading:21708040-Vacuoles, pubmed-meshheading:21708040-Multienzyme Complexes, pubmed-meshheading:21708040-Muscle Cells, pubmed-meshheading:21708040-DNA Mutational Analysis, pubmed-meshheading:21708040-RNA Splice Sites, pubmed-meshheading:21708040-Molecular Diagnostic Techniques, pubmed-meshheading:21708040-Genomics, pubmed-meshheading:21708040-Myositis, Inclusion Body