Visualize Submit Comment
Metadata
ID DOID:0110927
Name nemaline myopathy 3
Definition A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
https://www.ncbi.nlm.nih.gov/pubmed/10508519, https://www.ncbi.nlm.nih.gov/pubmed/11333380
Xrefs

OMIM:161800

Synonyms

NEM3 [EXACT]

nemaline myopathy 3, autosomal dominant or recessive [EXACT]

Parent Relationships

is_a nemaline myopathy

Add an item to the term tracker