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Zaspopathy, an autosomal dominant hereditary disorder, is a novel form of progressive muscular dystrophy, first described in 2005 by Selcen et al. The disease encompasses multiple forms of both distal and proximal myopathies caused by mutation in a gene referred to as ZASP.The ZASP gene is located at chromosome 10, and encodes a so-called Z-disk-associated protein.Mutation in this protein causes disintergration of the Z-disk of contractile elements (myofibrils) in muscle cells. Mutations of several other Z-disk related protein are known to cause similar diseases; these include desmin, alfa-B-crystallin and myotilin.
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