Search Ontology:
Human Disease
infantile-onset myofibrillar myopathy-2B
- Term ID
- DOID:0080309
- Synonyms
-
- fatal infantile hypertonic myofibrillar myopathy
- MFM2B
- Definition
- A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/23995273
- References
- Ontology
- Human Disease ( DOID:0080309 )
Other Pages
Genes Involved
Zebrafish Models