nemaline myopathy 5B

Term ID

DOID:0081374

Synonyms

Definition

A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. https://pubmed.ncbi.nlm.nih.gov/35165004/

References

• OMIM:620386

Ontology

Human Disease   ( DOID:0081374 )