| Metadata | |
|---|---|
| ID | DOID:0110935 |
| Name | nemaline myopathy 6 |
| Definition | A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. https://www.ncbi.nlm.nih.gov/pubmed/21109227 |
| Xrefs | |
| Synonyms |
nemaline myopathy 6, autosomal dominant [EXACT] |
| Parent Relationships |
is_a nemaline myopathy |