Article
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
Human molecular genetics - 20 Jan 2024
Endo Yukari, Groom Linda, Wang Sabrina M, Pannia Emanuela, Griffiths Nigel W, Van Gennip Jenica L M, Ciruna Brian, Laporte Jocelyn, Dirksen Robert T, Dowling James J
Abstract excerpt
CACNA1S-related myopathy, due to pathogenic variants in the CACNA1S gene, is a recently described congenital muscle disease. Disease associated variants result in loss of gene expression and/or reduction of Cav1.1 protein stability. There is an incomplete understanding of the underlying disease pathomechanisms and no effective therapies are currently available. A barrier to the study of this myopathy is the lack...
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