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Metadata
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

MESH:C538398

MIM:609273

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

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