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Disease Ontology Browser
congenital myopathy 4B (DOID:0110926)
Alliance: disease page
Synonyms: autosomal recessive congenital myopathy 4B; NEM1; nemaline myopathy 1; nemaline myopathy 1, autosomal dominant or recessive
Alt IDs: OMIM:609284, MESH:C538348
Definition: A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory