Zaspopathy

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OMIM = 609452
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Zaspopathy, [cite journal |author=Griggs R, Vihola A, Hackman P, "et al" |title=Zaspopathy in a large classic late-onset distal myopathy family |journal=Brain |volume=130 |issue=Pt 6 |pages=1477–84 |year=2007 |pmid=17337483 |doi=10.1093/brain/awm006 |url=] also called ZASP-related myofibril myopathy, [OMIM|609452] is a novel autosomal dominantcite journal |author=Selcen D, Engel AG |title=Mutations in ZASP define a novel form of muscular dystrophy in humans |journal=Ann. Neurol. |volume=57 |issue=2 |pages=269–76 |year=2005 |pmid=15668942 |doi=10.1002/ana.20376 |url=http://www3.interscience.wiley.com/cgi-bin/abstract/109873262/ABSTRACT?CRETRY=1&SRETRY=0] form of progressive muscular dystrophy, first described in 2005.

The disease encompasses multiple forms of both distal and proximal myopathies, and is caused by mutations in the gene referred to as ZASP.

Pathophysiology

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.

References

See also

* (gene)