With the support of funding from the Myotubular Trust, the team of Jocelyn Laporte, have identified a novel gene – CACNA1S – implicated in centronuclear myopathy. This is a very important breakthrough as it highlights new potential research avenues, and is in fact a gene that has already been well studied in relation to other conditions. The identification of new genes gives hope too to families who currently do not have a genetic diagnosis.

By high-throughput sequencing of the DNA of 11 patients who did not have a genetic diagnosis for their centronuclear myopathy, the researchers revealed that all of them had mutations in the same gene CACNA1S, Surprisingly, these mutations are widespread in the gene and are either from recessive or dominant transmission. The gene CACNA1S was already well studied because of its implication in other diseases, but this is the first time that this gene is associated with a myopathy.
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