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
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1409 CRYAA crystallin alpha A
1410 CRYAB crystallin alpha B
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12954 Cryaa crystallin, alpha A
12955 Cryab crystallin, alpha B
243912 Hspb6 heat shock protein, alpha-crystallin-related, B6
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24273 Cryaa crystallin, alpha A
25420 Cryab crystallin, alpha B
192245 Hspb6 heat shock protein family B (small) member 6

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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 9, 2024