Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy)

Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene. Our previous data suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3 knock-out mice (C3KO), Ca(2+ )release and Ca(2+)/calmodulin kinase II (CaMKII)...

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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: Kramerova, Irina, Ermolova, Natalia, Eskin, Ascia, Hevener, Andrea, Quehenberger, Oswald, Armando, Aaron M., Haller, Ronald, Romain, Nadine, Nelson, Stanley F., Spencer, Melissa J.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5081050/
https://ncbi.nlm.nih.gov/pubmed/27005420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw086
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