Term Name: nemaline myopathy 5C
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.
Ontology: Human Disease [DOID:0081375]   ( DOID:0081375 )

Relationships
is a type of: autosomal dominant disease nemaline myopathy