nemaline myopathy 6

Term ID

DOID:0110935

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. https://www.ncbi.nlm.nih.gov/pubmed/21109227

References

• MESH:C538398
• OMIM:609273

Ontology

Human Disease   ( DOID:0110935 )