Search Ontology:
Human Disease

centronuclear myopathy 6 with fiber-type disproportion

Term ID
DOID:0111221
Synonyms
  • CNM6
Definition
An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/27816943
References
Ontology
Human Disease   ( DOID:0111221 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models