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1
Cause
2
Pathophysiology
3
Diagnosis
4
Treatment
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References
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External links
Zaspopathy
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From Wikipedia, the free encyclopedia
Zaspopathy |
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Other names | Late-onset distal myopathy, Markesbery-Griggs type |
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![](//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/220px-Autosomal_dominant_-_en.svg.png) |
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]
![[icon]](//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/20px-Wiki_letter_w_cropped.svg.png) |
This section is empty. You can help by adding to it. (August 2017)
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Treatment
[edit]
![[icon]](//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/20px-Wiki_letter_w_cropped.svg.png) |
This section is empty. You can help by adding to it. (August 2017)
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References
[edit]
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^ 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
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e
Retrieved from "https://en.wikipedia.org/w/index.php?title=Zaspopathy&oldid=1105096471"
Categories:
●Autosomal dominant disorders
●Rare diseases
●Myoneural junction and neuromuscular diseases
●Musculoskeletal disease stubs
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