Search Ontology:
Human Disease

myofibrillar myopathy 3

Term ID
DOID:0080094
Synonyms
  • autosomal dominant limb-girdle muscular dystrophy type 1A
  • LGMD 1A
  • LGMD1A
  • myotilinopathy
  • spheroid body myopathy
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. (3)
References
Ontology
Human Disease   ( DOID:0080094 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models