Zaspopathy
| Zaspopathy | |
| OMIM | 609452 |
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Overview
Zaspopathy,[1] also called ZASP-related myofibril myopathy,[2] is a novel autosomal dominant[3] 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 proteins, such as desmin, alfa-B-crystallin and myotilin can cause disorders similar to zaspopathy.
References
- ↑ Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B (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. Unknown parameter
|month=ignored (help) - ↑ Online Mendelian Inheritance in Man (OMIM) 609452
- ↑ 3.0 3.1 Selcen D, Engel AG (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. Unknown parameter
|month=ignored (help)