nemaline myopathy 4

Term ID

DOID:0110932

Synonyms

• CAP myopathy 2
• NEM4
• nemaline myopathy 4, autosomal dominant

Definition

A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/11738357

References

• MESH:C538351
• OMIM:609285

Ontology

Human Disease   ( DOID:0110932 )