Metadata | |
---|---|
ID | DOID:0110933 |
Name | nemaline myopathy 11 |
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. https://www.ncbi.nlm.nih.gov/pubmed/28017374 |
Xrefs | |
Synonyms |
NEM11 [EXACT] nemaline myopathy 11, autosomal recessive [EXACT] |
Parent Relationships |
is_a nemaline myopathy |