Journal article icon

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...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1093/hmg/ddz092

Authors


Expand authors...
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
Source identifiers:
995397
Language:
English
Keywords:
Pubs id:
pubs:995397
UUID:
uuid:05c05357-2771-4e2a-8503-068912b4cb3d
Local pid:
pubs:995397
Deposit date:
2019-05-02

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP