Congenital myopathy 4B, autosomal recessive

Definition

Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.

Also known as nemaline myopathy caused by mutation in TPM3, TPM3 nemaline myopathy — per MONDO

Also identified as

• DOID 0110926 per MONDO
• MESH C538348 per MONDO
• OMIM 609284 per MONDO
• UMLS C5829889 per MONDO