Zaspopathy

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Zaspopathy
Classification and external resources
OMIM 609452

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[edit]

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 proteins, such as desmin, alfa-B-crystallin and myotilin can cause disorders similar to zaspopathy.

References[edit]

  1. ^ 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. 
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) 609452
  3. ^ 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. 

See also[edit]