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myofibrillar myopathy 2

Summary
Synonym
  • alpha-b crystallinopathy
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
Super Class
autosomal dominant disease myofibrillar myopathy
Disease Ontology
DOID:0080093
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1410 CRYAB crystallin alpha B
Displaying 1 entry
Gene ID Gene Symbol Description Source
12955 Cryab crystallin, alpha B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02511 Alpha-crystallin B chain
Displaying 1 entry
UniProt ID Protein Name Source
P23927 Alpha-crystallin B chain
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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: March 31, 2025