nemaline myopathy 5C

Term ID

DOID:0081375

Synonyms

Definition

A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/35510366/

References

• OMIM:620389

Ontology

Human Disease   ( DOID:0081375 )