nemaline myopathy 5B

Term ID

DOID:0080003

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.

References

Ontology

Human Disease   ( DOID:0080003 )