Human genes for nemaline myopathy 6
Nemaline myopathy 6 [DOID:0110935]
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.
Synonyms: nemaline myopathy 6, DOID:0110935, nemaline myopathy 6, autosomal dominant, autosomal dominant nemaline myopathy 6, nemaline myopathy 6 autosomal dominant