Ca²⁺ dysregulation in Ryr1I⁴⁸⁹⁵T/wt mice causes congenital myopathy with progressive formation of mi...
Ca²⁺ dysregulation in Ryr1I⁴⁸⁹⁵T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
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Publisher
National Academy of Sciences
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Language
English
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Publisher
National Academy of Sciences
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Ryr1I⁴⁸⁹⁵T/wt (IT/+) mice express a knockin mutation corresponding to the human I4898T EC-uncoupling mutation in the type 1 ryanodine receptor/Ca²⁺ 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,...
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Full title
Ca²⁺ dysregulation in Ryr1I⁴⁸⁹⁵T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
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TN_cdi_pnas_primary_106_51_21813
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pnas_primary_106_51_21813
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.0912126106
