Search Ontology:
Human Disease

tibial muscular dystrophy

Term ID
DOID:0111078
Synonyms
  • distal titinopathy
  • Finnish tibial muscular dystrophy
  • Tardive tibial muscular dystrophy
  • TMD
  • Udd myopathy
  • Udd type distal myopathy
Definition
A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. (3)
References
Ontology
Human Disease   ( DOID:0111078 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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