Term Name: nemaline myopathy 5A
Synonyms: Amish nemaline myopathy, ANM, NEM5, nemaline myopathy 5, Amish type
Definition: A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset.
Ontology: Human Disease [DOID:0110936]   ( DOID:0110936 )

Relationships
is a type of: autosomal recessive disease nemaline myopathy