Contents

Zaspopathy

Medical condition

Zaspopathy
Other names	Late-onset distal myopathy, Markesbery-Griggs type
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]

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Treatment[edit]

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References[edit]

External links[edit]

• Online Mendelian Inheritance in Man (OMIM): LIM DOMAIN-BINDING 3; LDB3 - 605906 (gene)