nemaline myopathy 5A (DOID:0110936)
Alliance: disease page
Synonyms: Amish nemaline myopathy; ANM; NEM5; nemaline myopathy 5, Amish type
Alt IDs: OMIM:605355, MESH:C538397, ORDO:98902
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.