Medicine:Zaspopathy
From HandWiki
| Zaspopathy | |
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| Other names | Late-onset distal myopathy, Markesbery-Griggs type |
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| Zaspopathy has an autosomal dominant pattern of inheritance. | |
Zaspopathy,[1] also called ZASP-related myofibril myopathy,[2] is a novel autosomal dominant[3] form of progressive muscular dystrophy, first described in 2005.
Cause
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 also-called Z-disk-associated protein. Mutations in this protein causes disintegration of the Z-disk of contractile elements (myofibrils) in muscle cells.[citation needed]
Mutations of several other Z-disk related proteins, such as desmin, alfa-B-crystallin and myotilin can cause disorders similar to zaspopathy.[citation needed]
Diagnosis
Treatment
References
- ↑ "Zaspopathy in a large classic late-onset distal myopathy family" (Free full text). Brain: A Journal of Neurology 130 (Pt 6): 1477–1484. Jun 2007. doi:10.1093/brain/awm006. PMID 17337483. http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=17337483.
- ↑ Online Mendelian Inheritance in Man (OMIM) 609452
- ↑ 3.0 3.1 "Mutations in ZASP define a novel form of muscular dystrophy in humans". Annals of Neurology 57 (2): 269–276. Feb 2005. doi:10.1002/ana.20376. PMID 15668942. http://www3.interscience.wiley.com/cgi-bin/abstract/109873262/ABSTRACT?CRETRY=1&SRETRY=0.
External links
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