Search Ontology:
Human Disease

adult-onset myofibrillar myopathy 2A

Term ID
DOID:0080093
Synonyms
  • alpha-b crystallinopathy
  • myofibrillar myopathy 2
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/14681890/
References
Ontology
Human Disease   ( DOID:0080093 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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