nemaline myopathy 3 (DOID:0110927)
Alliance: disease page
Synonyms: congenital myopathy 2A; NEM3; nemaline myopathy 3, autosomal dominant or recessive
Alt IDs: OMIM:161800
Definition: A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.