Term Name: | nemaline myopathy 11 |
---|---|
Synonyms: | NEM11, nemaline myopathy 11, autosomal recessive |
Definition: | A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. |
Ontology: | Human Disease [DOID:0110933] ( DOID:0110933 ) |