Visualize Submit Comment
Metadata
ID DOID:0111078
Name tibial muscular dystrophy
Definition A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
https://www.ncbi.nlm.nih.gov/pubmed/12145747, https://www.ncbi.nlm.nih.gov/pubmed/196233, https://www.ncbi.nlm.nih.gov/pubmed/8503797
Xrefs

MESH:D049310

OMIM:600334

ORDO:609

UMLS_CUI:C1838244

Synonyms

distal titinopathy [EXACT]

Finnish tibial muscular dystrophy [EXACT]

Tardive tibial muscular dystrophy [EXACT]

TMD [EXACT]

Udd myopathy [EXACT]

Udd type distal myopathy [EXACT]

Parent Relationships

is_a distal myopathy

Add an item to the term tracker