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nemaline myopathy 6

Go to external page http://purl.obolibrary.org/obo/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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

nemaline myopathy 6

Synonyms
  • nemaline myopathy 6, autosomal dominant
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disease_ontology

id

DOID:0110935