OBO ID: DOID:0080092
Term Name: myofibrillar myopathy 1 Search Ontology:
Synonyms:
  • autosomal recessive limb-girdle muscular dystrophy type 2R
  • desminopathy
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. (2)
References:
Ontology: Human Disease   (DOID:0080092)
OTHER myofibrillar myopathy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DES Myopathy, myofibrillar, 1 601419
ZEBRAFISH MODELS
Fish Conditions Citations
desmact122aGt/ct122aGt control Ramspacher et al., 2015
desmasa5/sa5 control Ramspacher et al., 2015
PHENOTYPE No data available

CITATIONS (1)