Search Ontology:
Human Disease

centronuclear myopathy 1

Term ID
DOID:0111223
Synonyms
  • CNM1
Definition
An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. https://www.ncbi.nlm.nih.gov/pubmed/16227997
References
Ontology
Human Disease   ( DOID:0111223 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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