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| Zaspopathy Classification and external resources |
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| OMIM | 609452 |
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Zaspopathy,1 also called ZASP-related myofibril myopathy,2 is a novel autosomal dominant3 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.3
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
- ^ Griggs R, Vihola A, Hackman P, et al (2007). "Zaspopathy in a large classic late-onset distal myopathy family". Brain 130 (Pt 6): 1477–84. doi:. PMID 17337483.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 609452
- ^ a b Selcen D, Engel AG (2005). "Mutations in ZASP define a novel form of muscular dystrophy in humans". Ann. Neurol. 57 (2): 269–76. doi:. PMID 15668942, http://www3.interscience.wiley.com/cgi-bin/abstract/109873262/ABSTRACT?CRETRY=1&SRETRY=0.
See also
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- This page was last modified on 20 August 2008, at 15:17.
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