Zaspopathy
| Zaspopathy | |
|---|---|
| Other names | Late-onset distal myopathy, Markesbery-Griggs type |
 | |
| 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[edit]
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[edit]
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[edit]
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Treatment[edit]
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References[edit]
- ^ Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B (Jun 2007). "Zaspopathy in a large classic late-onset distal myopathy family" (Free full text). Brain: A Journal of Neurology. 130 (Pt 6): 1477–1484. doi:10.1093/brain/awm006. PMID 17337483.
- ^ Online Mendelian Inheritance in Man (OMIM): 609452
- ^ a b Selcen D, Engel AG (Feb 2005). "Mutations in ZASP define a novel form of muscular dystrophy in humans". Annals of Neurology. 57 (2): 269–276. doi:10.1002/ana.20376. PMID 15668942. S2CID 25733755. Archived from the original on 2012-12-17.
External links[edit]