OBO ID: DOID:0080094
Term Name: myofibrillar myopathy 3 Search Ontology:
Synonyms:
  • autosomal dominant limb-girdle muscular dystrophy type 1A
  • LGMD 1A
  • myotilinopathy
  • spheroid body myopathy
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. (4)
References:
Ontology: Human Disease   ( DOID:0080094 )
Relationships
is a type of:
OTHER myofibrillar myopathy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MYOT Myopathy, myofibrillar, 3 609200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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