| Metadata | |
|---|---|
| ID | DOID:0110926 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110926 Copy |
| Name | congenital myopathy 4B |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10619715, https://www.ncbi.nlm.nih.gov/pubmed/24095155, https://www.ncbi.nlm.nih.gov/pubmed/7704029 |
| Xrefs | |
| Synonyms |
autosomal recessive congenital myopathy 4B [EXACT] NEM1 [EXACT] nemaline myopathy 1 [EXACT] nemaline myopathy 1, autosomal dominant or recessive [EXACT] |
| Parent Relationships |
is_a congenital myopathy |