nemaline myopathy 6
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
nemaline myopathy 6
- nemaline myopathy 6, autosomal dominant
disease_ontology
DOID:0110935