Zaspopathy
From Wikipedia, the free encyclopedia
| Zaspopathy Classification and external resources |
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| OMIM | 609452 |
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Zaspopathy, also called ZASP-related myofibril myopathy, is a novel autosomal dominant 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.
[edit] Pathophysiology
Zaspopathy has an autosomal dominant pattern of inheritance.
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 protein are known to cause similar diseases; these include desmin, alfa-B-crystallin and myotilin.
[edit] External links
- Selcen D, Engel AG.: Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57(2):269-76. PMID 15668942
- Online 'Mendelian Inheritance in Man' (OMIM) 609452 (condition)
- Online 'Mendelian Inheritance in Man' (OMIM) 605906 (gene)
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