OBO ID: DOID:0080102
Term Name: congenital myopathy 4A Search Ontology:
Synonyms:
  • CFTD
  • congenital fiber-type disproportion
Definition: A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion
References:
Ontology: Human Disease   ( DOID:0080102 )
OTHER congenital myopathy 4A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TPM3 Congenital myopathy 4A, autosomal dominant 255310
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None