Summary Literature (0)

DOID:0110935 - nemaline myopathy 6

Disease Ontology 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.

Synonyms: nemaline myopathy 6, autosomal dominant,

Echinobase Genes :


OMIM:

MIM:609273 - nemaline myopathy 6; nem6

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee