Term Name: | nemaline myopathy 6 |
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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 ) |