OBO ID: DOID:0111223
Term Name: centronuclear myopathy 1 Search Ontology:
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)
OTHER centronuclear myopathy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNM2 Centronuclear myopathy 1 160150
MTMR14 {Centronuclear myopathy, autosomal, modifier of} 160150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None