Metadata | |
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ID | DOID:0110935 |
Name | nemaline myopathy 6 |
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 |
Xrefs | |
Synonyms |
nemaline myopathy 6, autosomal dominant [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a nemaline myopathy |
Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some autosomal dominant inheritance has symptom some muscle weakness |