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Researchers find new gene mutation associated with congenital myopathy
Date:7/25/2012

y whole exome capture and next generation sequencing in a family with congenital myopathy. They then validated the gene mutation and provided insights into the disease pathomechanisms using the zebrafish model system.

Dowling says the researchers' next step is to further model the disease using zebrafish, in the hopes that this knowledge can be translated into therapy development.

"The study provides the first descriptions of the zebrafish model, and gives insight into how we will use it," says Dowling, who also is director of the Pediatric Neuromuscular Disorders Clinic at C.S. Mott Children's Hospital.

"Once we develop and characterize a model of the disease, we can then use it as a platform for therapy development."


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Contact: Mary F. Masson
mfmasson@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

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