| Term Name: | congenital myopathy 4B |
|---|---|
| Synonyms: | autosomal recessive congenital myopathy 4B, NEM1, nemaline myopathy 1, nemaline myopathy 1, autosomal dominant or recessive |
| 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. |
| Ontology: | Human Disease [DOID:0110926] ( DOID:0110926 ) |