myofibrillar myopathy 4

Summary
Synonym
  • zaspopathy
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.
Super Class
autosomal dominant disease myofibrillar myopathy
Disease Ontology
DOID:0080095
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11155 LDB3 LIM domain binding 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
36740 Zasp52 Z band alternatively spliced PDZ-motif protein 52
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O75112 LIM domain-binding protein 3
Displaying 1 entry
UniProt ID Protein Name Source
A1ZA47 PDZ and LIM domain protein Zasp

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025