Journal article
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength
- Abstract:
-
Recessive ryanodine receptor 1 (RYR1) mutations cause congenital myopathies including multiminicore disease (MmD), congenital fiber-type disproportion and centronuclear myopathy. We created a mouse model knocked-in for the Q1970fsX16+A4329D RYR1 mutations, which are isogenic with those identified in a severely affected child with MmD. During the first 20 weeks after birth the body weight and the spontaneous running distance of the mutant mice were 20% and 50% lower compared to wild-type litte...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Bibliographic Details
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Human Molecular Genetics Journal website
- Volume:
- 28
- Issue:
- 18
- Pages:
- 2987–2999
- Publication date:
- 2019-05-02
- Acceptance date:
- 2019-04-25
- DOI:
- EISSN:
-
1460-2083
- ISSN:
-
0964-6906
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:995397
- UUID:
-
uuid:05c05357-2771-4e2a-8503-068912b4cb3d
- Local pid:
- pubs:995397
- Source identifiers:
-
995397
- Deposit date:
- 2019-05-02
Terms of use
- Copyright holder:
- Elbaz et al.
- Copyright date:
- 2019
- Rights statement:
- © The Author(s) 2019. Published by Oxford University Press. All rights reserved.
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from Oxford University Press at: https://doi.org/10.1093/hmg/ddz092
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