| pubmed-article:11829483 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C0026850 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C0027121 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C0025914 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C0521324 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C0056248 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C1514562 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C1883221 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C1883204 | lld:lifeskim |
| pubmed-article:11829483 | lifeskim:mentions | umls-concept:C1880389 | lld:lifeskim |
| pubmed-article:11829483 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:11829483 | pubmed:dateCreated | 2002-2-6 | lld:pubmed |
| pubmed-article:11829483 | pubmed:abstractText | Muscular dystrophy with myositis (mdm) is a recessive mouse mutation that causes severe and progressive muscular degeneration. Here we report the identification of the mdm mutation as a complex rearrangement that includes a deletion and a LINE insertion in the titin (Ttn) gene. Mutant allele-specific splicing results in the deletion of 83 amino acids from the N2A region of TTN, a domain thought to bind calpain-3 (CAPN3) the product of the human limb-girdle muscular dystrophy type 2A (LGMD2A) gene. The Ttn(mdm) mutant mouse may serve as a model for human tibial muscular dystrophy, which maps to the TTN locus at 2q31 and shows a secondary reduction of CAPN3 similar to that observed in mdm skeletal muscle. This is the first demonstration that a mutation in Ttn is associated with muscular dystrophy and provides a novel animal model to test for functional interactions between TTN and CAPN3. | lld:pubmed |
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| pubmed-article:11829483 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11829483 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11829483 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:11829483 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11829483 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:11829483 | pubmed:issn | 0888-7543 | lld:pubmed |
| pubmed-article:11829483 | pubmed:author | pubmed-author:GarveySean... | lld:pubmed |
| pubmed-article:11829483 | pubmed:author | pubmed-author:RajanChandrik... | lld:pubmed |
| pubmed-article:11829483 | pubmed:author | pubmed-author:LernerAllen... | lld:pubmed |
| pubmed-article:11829483 | pubmed:author | pubmed-author:FrankelWayne... | lld:pubmed |
| pubmed-article:11829483 | pubmed:author | pubmed-author:CoxGregory... | lld:pubmed |
| pubmed-article:11829483 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11829483 | pubmed:volume | 79 | lld:pubmed |
| pubmed-article:11829483 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11829483 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11829483 | pubmed:pagination | 146-9 | lld:pubmed |
| pubmed-article:11829483 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:11829483 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:11829483 | pubmed:articleTitle | The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. | lld:pubmed |
| pubmed-article:11829483 | pubmed:affiliation | The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA. | lld:pubmed |
| pubmed-article:11829483 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11829483 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
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