Term Name: nemaline myopathy 6
Synonyms: nemaline myopathy 6, autosomal dominant
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.
Ontology: Human Disease [DOID:0110935]   ( DOID:0110935 )

Relationships
is a type of: autosomal dominant disease nemaline myopathy