| pubmed-article:19959667 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C0206427 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C0270960 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C0205329 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C1419778 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C0444669 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C0596235 | lld:lifeskim |
| pubmed-article:19959667 | lifeskim:mentions | umls-concept:C1522492 | lld:lifeskim |
| pubmed-article:19959667 | pubmed:issue | 51 | lld:pubmed |
| pubmed-article:19959667 | pubmed:dateCreated | 2010-1-18 | lld:pubmed |
| pubmed-article:19959667 | pubmed:abstractText | Ryr1(I4895T/wt) (IT/+) mice express a knockin mutation corresponding to the human I4898T EC-uncoupling mutation in the type 1 ryanodine receptor/Ca(2+) release channel (RyR1), which causes a severe form of central core disease (CCD). IT/+ mice exhibit a slowly progressive congenital myopathy, with neonatal respiratory stress, skeletal muscle weakness, impaired mobility, dorsal kyphosis, and hind limb paralysis. Lesions observed in myofibers from diseased mice undergo age-dependent transformation from minicores to cores and nemaline rods. Early ultrastructural abnormalities include sarcomeric misalignment, Z-line streaming, focal loss of cross-striations, and myofibrillar splitting and intermingling that may arise from defective myofibrillogenesis. However, manifestation of the disease phenotype is highly variable on a Sv129 genomic background. Quantitative RT-PCR shows an equimolar ratio of WT and mutant Ryr1 transcripts within IT/+ myofibers and total RyR1 protein expression levels are normal. We propose a unifying theory in which the cause of core formation lies in functional heterogeneity among RyR1 tetramers. Random combinations of normal and either leaky or EC-uncoupled RyR subunits would lead to spatial differences in Ca(2+) transients; the resulting heterogeneity of contraction among myofibrils would lead to focal, irreversible tearing and shearing, which would, over time, enlarge to form minicores, cores, and nemaline rods. The IT/+ mouse line is proposed to be a valid model of RyR1-related congenital myopathy, offering high potential for elucidation of the pathogenesis of skeletal muscle disorders arising from impaired EC coupling. | lld:pubmed |
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| pubmed-article:19959667 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:19959667 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:19959667 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19959667 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:19959667 | pubmed:issn | 1091-6490 | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:SeidmanJ GJG | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:MacLennanDavi... | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:SeidmanChrist... | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:HolmyardDougl... | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:TuplingA... | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:KraevAlexande... | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:ZvaritchElena... | lld:pubmed |
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| pubmed-article:19959667 | pubmed:author | pubmed-author:KraevaNatasha... | lld:pubmed |
| pubmed-article:19959667 | pubmed:author | pubmed-author:McCloyRobert... | lld:pubmed |
| pubmed-article:19959667 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19959667 | pubmed:day | 22 | lld:pubmed |
| pubmed-article:19959667 | pubmed:volume | 106 | lld:pubmed |
| pubmed-article:19959667 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19959667 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19959667 | pubmed:pagination | 21813-8 | lld:pubmed |
| pubmed-article:19959667 | pubmed:dateRevised | 2010-9-27 | lld:pubmed |
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| pubmed-article:19959667 | pubmed:meshHeading | pubmed-meshheading:19959667... | lld:pubmed |
| pubmed-article:19959667 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19959667 | pubmed:articleTitle | Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. | lld:pubmed |
| pubmed-article:19959667 | pubmed:affiliation | Banting and Best Department of Medical Research, Charles H. Best Institute, University of Toronto, Toronto, Ontario, Canada M5G 1L6. | lld:pubmed |
| pubmed-article:19959667 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19959667 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:19959667 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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