nemaline myopathy 6 (DOID:0110935)
Alliance: disease page
Synonyms: nemaline myopathy 6, autosomal dominant
Alt IDs: OMIM:609273, MESH:C538398
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.