Congenital myopathy 23
Congenital myopathy 23
Definition
Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.
Also known as CAPM2, NEM4, nemaline myopathy 4, nemaline myopathy caused by mutation in TPM2, nemaline myopathy type 4, TPM2 nemaline myopathy — per MONDO
Also identified as
- DOID 0110932 per MONDO
- MESH C538351 per MONDO
- NCIT C164225 per MONDO
- OMIM 609285 per MONDO
- UMLS C1836447 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Musculature | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculature | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |