Zaspopathy
| Zaspopathy | |
|---|---|
| Other names | Late-onset distal myopathy, Markesbery-Griggs type |
 | |
| Zaspopathy has an autosomal dominant pattern of inheritance. | |
Zaspopathy,, 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
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
myotilin can cause disorders similar to zaspopathy.[citation needed
]
Diagnosis
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Treatment
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References
- PMID 17337483.
- ^ Online Mendelian Inheritance in Man (OMIM): 609452
- ^ S2CID 25733755. Archived from the originalon 2012-12-17.
External links