Term Name: | nemaline myopathy 3 |
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Synonyms: | congenital myopathy 2A, NEM3, nemaline myopathy 3, autosomal dominant or recessive |
Definition: | A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. |
Ontology: | Human Disease [DOID:0110927] ( DOID:0110927 ) |