Search Ontology:
Human Disease
congenital myopathy 29
- Term ID
- DOID:0061260
- Synonyms
-
- congenital myopathy 28 with contractures
- Definition
- A congenital myopathy characterized by hypotonia, distal joint contractures, and early respiratory and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the dystonin gene on chromosome 6p12. https://pubmed.ncbi.nlm.nih.gov/40497796/
- References
- Ontology
- Human Disease ( DOID:0061260 )
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Genes Involved
Zebrafish Models